Canonical Allele Identifier: PA645456112
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374974
ClinVar RCV Id: RCV000415622 RCV000721486 RCV000557798 RCV001580387 RCV002481292
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1032His
CA064406
NM_000540.3:c.3095G>A