ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801642
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000619441
RCV001187320
RCV002531791
RCV004002695
ClinVar Variation:
519455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1482Cys
CA086623
NM_001035.3:c.4444C>T