Canonical Allele Identifier: PA133161
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43920
ClinVar RCV Id: RCV000036890 RCV000228537 RCV000624002 RCV000617742 RCV000678697 RCV000766340 RCV000769764 RCV001101122 RCV002482983
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Ala644Thr
CA133160
NM_001103.4:c.1930G>A