Canonical Allele Identifier: PA645481915
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 381006
ClinVar RCV Id: RCV000428746 RCV000728005 RCV001584119
ClinVar Variation Id: 456391
ClinVar RCV Id: RCV000525765 RCV001507905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr711Arg
CA8815620
NM_000152.5:c.2132C>G
CA658658713
NM_000152.5:c.2132_2133delinsGG