Canonical Allele Identifier: PA2826590497
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373652
ClinVar RCV Id: RCV000413705 RCV000531943 RCV001560227 RCV002470854 RCV002436240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Arg643Cys
CA1473489
NM_001278344.2:c.1927C>T