Canonical Allele Identifier: PA2573176877
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1443710
ClinVar RCV Id: RCV001981354

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val740Leu
CA294856435
NM_001079804.3:c.2218G>T
CA401324733
NM_001079804.3:c.2218G>C