ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499242590
Gene: RYR3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001515626
ClinVar Variation:
1166904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230925.1:p.Ile731Val
CA7458354
NM_001243996.4:c.2191A>G