Allele Registry

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Canonical Allele Identifier: PA916010289

Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 463197

ClinVar RCV Id: RCV000559492 RCV002413496 RCV003226940

ClinVar Variation Id: 635219

ClinVar RCV Id: RCV000786086 RCV001349979

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265272.1:p.Gly650Arg	CA345387023 NM_001278343.2:c.1948G>A CA345387024 NM_001278343.2:c.1948G>C