Canonical Allele Identifier: PA915962716
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133219
ClinVar RCV Id: RCV000119740 RCV001802878
ClinVar Variation Id: 2028671
ClinVar RCV Id: RCV002876256
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2730Gly
CA024896
NM_001042723.2:c.8189A>G
CA2580097229
NM_001042723.2:c.8189_8190delinsGC