Canonical Allele Identifier: PA232003
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133143
ClinVar RCV Id: RCV000119632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1728Pro
CA024493
NM_000540.3:c.5182T>C