Canonical Allele Identifier: PA645481667
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 290616
ClinVar RCV Id: RCV000366470 RCV001379526
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met318Leu
CA10606846
NM_000152.5:c.952A>T
CA401364270
NM_000152.5:c.952A>C