Canonical Allele Identifier: PA2580146343
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435560
ClinVar RCV Id: RCV003135850

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile517Thr
CA405689252
NM_001042723.2:c.1550T>C