Canonical Allele Identifier: PA891845733
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 580157
ClinVar RCV Id: RCV000703619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Phe728Leu
CA401370649
NM_000152.5:c.2182T>C
CA401370654
NM_000152.5:c.2184C>G
CA401370655
NM_000152.5:c.2184C>A