Canonical Allele Identifier: PA891865266
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590423
ClinVar RCV Id: RCV000721304 RCV001129231 RCV001129230 RCV001129229 RCV001344994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser4361Thr
CA059555
NM_000540.3:c.13081T>A