ClinGen Allele Registry
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Canonical Allele Identifier:
PA306794
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182648
RCV001180306
RCV002381596
RCV002516864
ClinVar Variation:
201186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Phe4306Ser
CA007740
NM_001035.3:c.12917T>C