Canonical Allele Identifier: PA113048
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188728
ClinVar RCV Id: RCV000169030 RCV000483035
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Asp645Asn
CA273892
NM_000152.5:c.1933G>A