Canonical Allele Identifier: PA231814
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133038
ClinVar RCV Id: RCV000119461 RCV001449983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile4138Thr
CA023984
NM_000540.3:c.12413T>C