Canonical Allele Identifier: PA915962580
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692292
ClinVar RCV Id: RCV000855484 RCV002275162 RCV003117621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2433Pro
CA405669567
NM_001042723.2:c.7298T>C