Allele Registry

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.

Canonical Allele Identifier: PA915964852

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 571521

ClinVar RCV Id: RCV000692691 RCV002469262 RCV003144518

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Asp741Asn	CA8815660 NM_001079804.3:c.2221G>A