Canonical Allele Identifier: PA915961471
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133139
ClinVar RCV Id: RCV000119628 RCV001588950
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly165Arg
CA024473
NM_001042723.2:c.493G>A
CA405676912
NM_001042723.2:c.493G>C