ClinGen Allele Registry
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Canonical Allele Identifier:
PA177742
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000151753
RCV000157442
RCV000620852
RCV001804860
RCV003998216
ClinVar Variation:
165069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg122His
CA009317
NM_001035.3:c.365G>A