ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388148
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413267
RCV002338969
ClinVar Variation:
372582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg169Leu
CA16042319
NM_001035.3:c.506G>T