Canonical Allele Identifier: PA106252
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133081
ClinVar RCV Id: RCV000119536 RCV001580431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys4876Arg
CA024200
NM_000540.3:c.14627A>G