Canonical Allele Identifier: PA2825065025
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1518134
ClinVar RCV Id: RCV002021521

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser132Arg
CA401361029
NM_000152.5:c.394A>C
CA401361040
NM_000152.5:c.396C>A
CA401361041
NM_000152.5:c.396C>G