Canonical Allele Identifier: PA2825065051
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1043255
ClinVar RCV Id: RCV001347336

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr149Met
CA8814873
NM_000152.5:c.446C>T