Canonical Allele Identifier: PA249342
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 201158
ClinVar RCV Id: RCV000326085 RCV000329734 RCV000203140 RCV000272384 RCV000383042 RCV000721734 RCV001084220 RCV002225092 RCV003318366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val3088Met
CA024973
NM_000540.3:c.9262G>A