ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801673
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000619341
RCV001187319
RCV001770549
RCV002531807
RCV004002709
ClinVar Variation:
519547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Pro1857Leu
CA086908
NM_001035.3:c.5570C>T