Canonical Allele Identifier: PA1139670857
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 945914
ClinVar RCV Id: RCV001216662

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val310Leu
CA294891320
NM_001079804.3:c.928G>T
CA401364173
NM_001079804.3:c.928G>C