ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962509
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_001036188.1:p.Asn2283His
CA024656
NM_001042723.2:c.6847A>C