Canonical Allele Identifier: PA2580184694
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1704799
ClinVar RCV Id: RCV002283126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Trp490Cys
CA345384062
NM_001278343.2:c.1470G>C
CA345384064
NM_001278343.2:c.1470G>T