Canonical Allele Identifier: PA2825065427
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1413723
ClinVar RCV Id: RCV001928267
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser332Leu
CA8815125
NM_000152.5:c.995C>T