Canonical Allele Identifier: PA645456341
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329088
ClinVar RCV Id: RCV000352587 RCV000295514 RCV000721736 RCV001085870 RCV000387418 RCV000624697 RCV000372340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala3118Val
CA073512
NM_000540.3:c.9353C>T