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: PA2825461771

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 371277

ClinVar RCV Id: RCV000410150 RCV000733496

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Pro522Ala	CA16041893 NM_001079803.3:c.1564C>G