Canonical Allele Identifier: PA2825065096
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1745469
ClinVar RCV Id: RCV002344183
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val171Leu
CA401361709
NM_000152.5:c.511G>C
CA401361711
NM_000152.5:c.511G>T