Canonical Allele Identifier: PA2825462876
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1423013
ClinVar RCV Id: RCV001926412
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Lys760Asn
CA401324851
NM_001079803.3:c.2280G>C
CA401324852
NM_001079803.3:c.2280G>T