ClinGen Allele Registry
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Canonical Allele Identifier:
PA236782
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171685
RCV000771978
RCV002408743
RCV002516562
ClinVar Variation:
191488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg3567Cys
CA006749
NM_001035.3:c.10699C>T