Canonical Allele Identifier: PA232051
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65968
ClinVar RCV Id: RCV000056215 RCV000119671 RCV001580412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn2283His
CA024656
NM_000540.3:c.6847A>C