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: PA2825462896

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285197

ClinVar RCV Id: RCV000403113 RCV001049848

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Tyr766Cys	CA8815679 NM_001079803.3:c.2297A>G