Canonical Allele Identifier: PA2826589702
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1704799
ClinVar RCV Id: RCV002283126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Trp282Cys
CA345384062
NM_001278344.2:c.846G>C
CA345384064
NM_001278344.2:c.846G>T