Canonical Allele Identifier: PA208116
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212096
ClinVar RCV Id: RCV000194141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg530Leu
CA208114
NM_000540.3:c.1589G>T