Canonical Allele Identifier: PA2580147012
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435592
ClinVar RCV Id: RCV003130463
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2623Phe
CA405673763
NM_001042723.2:c.7869G>C
CA405673776
NM_001042723.2:c.7869G>T