Canonical Allele Identifier: PA891845691
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 575359
ClinVar RCV Id: RCV000697549 RCV003144541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg385Cys
CA8815183
NM_000152.5:c.1153C>T