ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962677
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
627593
ClinVar RCV Id:
RCV000770989
RCV003328625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu2619Pro
CA082875
NM_001042723.2:c.7856T>C