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: PA915964853

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526539

ClinVar RCV Id: RCV000631089

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Asp741Glu	CA8815661 NM_001079804.3:c.2223C>G CA401324741 NM_001079804.3:c.2223C>A