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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA573721956
Gene: PDE1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs145888147
gnomAD v2:
7-32376655-ACTCT-A
gnomAD v3:
7-32337043-ACTCT-A
gnomAD v4:
7-32337043-ACTCT-A
MyVariant Identifiers:
chr7:g.32376656_32376659del (hg19)
chr7:g.32337044_32337047del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.32337058_32337061del , CM000669.2:g.32337058_32337061del
GRCh38
NC_000007.13:g.32376670_32376673del , CM000669.1:g.32376670_32376673del
GRCh37
NC_000007.12:g.32343195_32343198del
NCBI36
NG_051183.1:g.96178_96181del
Transcript Alleles
HGVS
Amino-acid change
ENST00000672256.1:c.310+90775_310+90778del
ENSP00000499831.1:n.310+90775_310+90778del
NM_001322059.1:c.310+90775_310+90778del
NP_001308988.1:n.310+90775_310+90778del
NM_001322059.2:c.310+90775_310+90778del
NP_001308988.1:n.310+90775_310+90778del
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