Canonical Allele Identifier: PA106144
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133129
ClinVar RCV Id: RCV000119614 RCV001588945 RCV001854581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu13Arg
CA024414
NM_000540.3:c.38T>G