Canonical Allele Identifier: PA112945
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188773
ClinVar RCV Id: RCV000169099 RCV000725325
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg672Trp
CA273939
NM_000152.5:c.2014C>T