Canonical Allele Identifier: PA2499233212
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066439
ClinVar RCV Id: RCV001377444

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4861Pro
CA405687804
NM_000540.3:c.14582G>C