Canonical Allele Identifier: PA112867
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189082
ClinVar RCV Id: RCV000169488 RCV001781528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg437Cys
CA274356
NM_000152.5:c.1309C>T