Canonical Allele Identifier: PA106296
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133057
ClinVar RCV Id: RCV000119497 RCV001449984 RCV003997314 RCV003591681
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4684Ser
CA024101
NM_000540.3:c.14051T>C