Canonical Allele Identifier: PA913191900
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 593243
ClinVar RCV Id: RCV000728232 RCV001065556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu26Phe
CA8814783
NM_000152.5:c.76C>T