Canonical Allele Identifier: PA2499244953
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040716
ClinVar RCV Id: RCV001344405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Phe884Leu
CA345392615
NM_001278343.2:c.2650T>C
CA345392628
NM_001278343.2:c.2652C>A
CA345392630
NM_001278343.2:c.2652C>G