Canonical Allele Identifier: PA891845643
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 567275
ClinVar RCV Id: RCV000687301

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro75Ser
CA8814816
NM_000152.5:c.223C>T