Canonical Allele Identifier: PA891851915
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
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2102Leu
CA068028
NM_000540.3:c.6304G>C
CA068032
NM_000540.3:c.6304G>T