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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:
CA537695002
Gene: GAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1559262695
gnomAD v2:
2-171670644-AT-A
gnomAD v3:
2-170814134-AT-A
gnomAD v4:
2-170814134-AT-A
MyVariant Identifiers:
chr2:g.171670645del (hg19)
chr2:g.170814135del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.170814135del , CM000664.2:g.170814135del
GRCh38
NC_000002.11:g.171670645del , CM000664.1:g.171670645del
GRCh37
NC_000002.10:g.171378891del
NCBI36
NG_021477.1:g.2446del
Transcript Alleles
HGVS
Amino-acid change
ENST00000454603.5:c.-64+713del
ENSP00000402366.1:n.-64+713del
XM_011510922.1:c.-64+713del
XP_011509224.1:n.-64+713del
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