ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389383
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214458
RCV001190428
RCV001293045
RCV001753649
RCV002354611
RCV002518197
RCV003997752
ClinVar Variation:
229222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile1925Thr
CA074388
NM_001035.3:c.5774T>C