Canonical Allele Identifier: PA891865096
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590482
ClinVar RCV Id: RCV000721417 RCV000811413 RCV001580396 RCV003999827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val518Ala
CA405689274
NM_000540.3:c.1553T>C