Canonical Allele Identifier: PA2499233218
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213824
ClinVar RCV Id: RCV001591773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met4990Val
CA405693438
NM_000540.3:c.14968A>G