Canonical Allele Identifier: PA2573176618
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1366607
ClinVar RCV Id: RCV001944760 RCV003146281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Gln353His
CA401364773
NM_001079804.3:c.1059G>C
CA401364775
NM_001079804.3:c.1059G>T