Canonical Allele Identifier: PA232079
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133195
ClinVar RCV Id: RCV000119697 RCV001216014 RCV001197604 RCV001802868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2431Tyr
CA024744
NM_000540.3:c.7291G>T