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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:
CA521046629
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1192007415
gnomAD v2:
1-17722163-AG-A
gnomAD v4:
1-17395667-AG-A
MyVariant Identifiers:
chr1:g.17722164del (hg19)
chr1:g.17395668del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395670del , CM000663.2:g.17395670del
GRCh38
NC_000001.10:g.17722166del , CM000663.1:g.17722166del
GRCh37
NC_000001.9:g.17594753del
NCBI36
NG_032943.1:g.28425del
NG_032943.2:g.28425del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+7del
MANE Select
ENSP00000483125.1:n.1618+7del
NM_207421.4:c.1618+7del
MANE Select
NP_997304.3:n.1618+7del
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