Canonical Allele Identifier: PA2825540560
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1056609
ClinVar RCV Id: RCV001365469

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Ala847Pro
CA345392076
NM_001103.4:c.2539G>C
CA2499214570
NM_001103.4:c.2538_2539delinsTC