Canonical Allele Identifier: PA2825198435
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385686
ClinVar RCV Id: RCV001871424 RCV004010767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1752Asn
CA066816
NM_000540.3:c.5255G>A