Canonical Allele Identifier: PA113750
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 194154
ClinVar RCV Id: RCV000174449 RCV001242470
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser601Leu
CA274982
NM_000152.5:c.1802C>T