Canonical Allele Identifier: PA2825422751
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_001036188.1:p.Phe4679Ser
CA024101
NM_001042723.2:c.14036T>C