Canonical Allele Identifier: PA237028
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191600
ClinVar RCV Id: RCV000171869 RCV000685248 RCV000768748 RCV001532886 RCV002426817
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Arg851His
CA237027
NM_001103.4:c.2552G>A