ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962804
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119768
RCV000691233
RCV001788028
RCV001788029
RCV001788030
RCV001788031
RCV001788032
RCV001788033
RCV001788034
RCV002281947
ClinVar Variation:
133240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu3104Lys
CA024976
NM_001042723.2:c.9310G>A