ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963034
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013851
RCV000119463
ClinVar Variation:
12981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4209_Phe4211del
CA023997
NM_001042723.2:c.12625_12633del