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: PA913191909

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 597445

ClinVar RCV Id: RCV000733568

ClinVar Variation Id: 1524346

ClinVar RCV Id: RCV002049131

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Asn524Lys	CA401367224 NM_000152.5:c.1572C>A CA401367225 NM_000152.5:c.1572C>G