Canonical Allele Identifier: PA916010228
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_001265272.1:p.Gln484His
CA1473165
NM_001278343.2:c.1452G>C
CA345383931
NM_001278343.2:c.1452G>T