Canonical Allele Identifier: PA915964494
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_001073272.1:p.Met318Leu
CA10606846
NM_001079804.3:c.952A>T
CA401364270
NM_001079804.3:c.952A>C