Canonical Allele Identifier: PA105251
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133137
ClinVar RCV Id: RCV000119626 RCV001588949 RCV003227656 RCV003227657 RCV003227658 RCV003227659 RCV003227661 RCV003227660 RCV003227662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg163Leu
CA024467
NM_000540.3:c.488G>T