Canonical Allele Identifier: PA2499233204
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041548
ClinVar RCV Id: RCV001345371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4759Ser
CA061031
NM_000540.3:c.14275C>T