Canonical Allele Identifier: PA113224
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188797
ClinVar RCV Id: RCV000169127 RCV000723463
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly309Arg
CA273972
NM_000152.5:c.925G>A
CA401364061
NM_000152.5:c.925G>C
CA2838194639
NM_000152.5:c.921_925delinsTCACA