Canonical Allele Identifier: PA2499233207
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001848
ClinVar RCV Id: RCV001298195

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile4784Leu
CA405685354
NM_000540.3:c.14350A>C