Canonical Allele Identifier: PA645456527
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329137
ClinVar RCV Id: RCV000276585 RCV000334101 RCV000381623 RCV000368870 RCV002521226 RCV003317192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4868Lys
CA061423
NM_000540.3:c.14602G>A