Canonical Allele Identifier: PA2580129903
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2307299
ClinVar RCV Id: RCV002879556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4644Met
CA405681175
NM_000540.3:c.13930C>A