ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741827220
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2649795
ClinVar RCV Id:
RCV003425128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu1650Pro
CA405652499
NM_001042723.2:c.4949T>C