Canonical Allele Identifier: PA915962501
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590575
ClinVar RCV Id: RCV000721624 RCV001044390 RCV001580411
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His2253Tyr
CA308104435
NM_001042723.2:c.6757C>T