Canonical Allele Identifier: PA2741827970
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2662343
ClinVar RCV Id: RCV003443838
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2639Leu
CA308113591
NM_001042723.2:c.7915A>C
CA405674252
NM_001042723.2:c.7915A>T