Canonical Allele Identifier: PA2825462092
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 194154
ClinVar RCV Id: RCV000174449 RCV001242470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser601Leu
CA274982
NM_001079803.3:c.1802C>T