ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801843
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
515710
ClinVar RCV:
RCV002529895
ClinVar Variation:
532324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile4862Thr
CA345426834
NM_001035.3:c.14585T>C