Canonical Allele Identifier: PA645505175
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43920
ClinVar RCV Id: RCV000036890 RCV000228537 RCV000624002 RCV000617742 RCV000678697 RCV000766340 RCV000769764 RCV001101122 RCV002482983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Ala644Thr
CA133160
NM_001278343.2:c.1930G>A