Canonical Allele Identifier: PA1139679959
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 891364
ClinVar RCV Id: RCV001126617 RCV001126616 RCV001126618 RCV002505704 RCV002556758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1670Cys
CA405653030
NM_001042723.2:c.5008C>T