Canonical Allele Identifier: PA658674406
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456394
ClinVar RCV Id: RCV000543367 RCV002431530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr739Ser
CA8815657
NM_000152.5:c.2215A>T
CA401324731
NM_000152.5:c.2216C>G