Canonical Allele Identifier: PA915962416
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580243
ClinVar RCV Id: RCV000703718 RCV002485751 RCV003999743
ClinVar Variation Id: 1210308
ClinVar RCV Id: RCV001580418 RCV002501937
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2102Leu
CA068028
NM_001042723.2:c.6304G>C
CA068032
NM_001042723.2:c.6304G>T