Canonical Allele Identifier: PA2825066488
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1793288
ClinVar RCV Id: RCV002452790

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Phe858Leu
CA401326222
NM_000152.5:c.2572T>C
CA401326231
NM_000152.5:c.2574C>A
CA401326232
NM_000152.5:c.2574C>G