Canonical Allele Identifier: PA2825066279
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1398512
ClinVar RCV Id: RCV001915101 RCV002425200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Phe713Leu
CA8815622
NM_000152.5:c.2137T>C
CA401370567
NM_000152.5:c.2139C>A
CA401370568
NM_000152.5:c.2139C>G