Canonical Allele Identifier: PA2741817002
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2738605
ClinVar RCV Id: RCV003591149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4893Leu
CA405690254
NM_000540.3:c.14678G>T