Canonical Allele Identifier: PA232014
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133150
ClinVar RCV Id: RCV000119639 RCV001580422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met1814Lys
CA024520
NM_000540.3:c.5441T>A