ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961732
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
623103
ClinVar RCV:
RCV001823164
RCV001873202
RCV003128254
ClinVar Variation:
635268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg614His
CA062493
NM_001042723.2:c.1841G>A