Canonical Allele Identifier: PA272967
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161364
ClinVar RCV Id: RCV000148794 RCV000342699 RCV000382065 RCV000285430 RCV000377673 RCV000487911 RCV001085867 RCV002051684
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1679His
CA024479
NM_000540.3:c.5036G>A