Canonical Allele Identifier: PA2825066572
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1055315
ClinVar RCV Id: RCV001363962

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gln915His
CA401327154
NM_000152.5:c.2745G>C
CA401327156
NM_000152.5:c.2745G>T