Canonical Allele Identifier: PA105329
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12966
ClinVar RCV Id: RCV000013832 RCV000119699 RCV000707405 RCV001787398 RCV001787399 RCV001787400 RCV001787401 RCV001787396 RCV001787395 RCV001787397 RCV002281705 RCV004017238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2435His
CA024750
NM_000540.3:c.7304G>A