Allele Registry

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Canonical Allele Identifier: PA645504624

Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 417196

ClinVar RCV Id: RCV000475887 RCV000769758 RCV003168932

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001094.1:p.Gln484His	CA1473165 NM_001103.4:c.1452G>C CA345383931 NM_001103.4:c.1452G>T