Canonical Allele Identifier: PA2825422813
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935200
ClinVar RCV Id: RCV001203743
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4740Glu
CA405684522
NM_001042723.2:c.14220C>A
CA405684523
NM_001042723.2:c.14220C>G