Canonical Allele Identifier: PA2825065581
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 694452
ClinVar RCV Id: RCV000855786 RCV002223962
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu398Pro
CA401365139
NM_000152.5:c.1193T>C