ClinGen Allele Registry
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Canonical Allele Identifier:
PA658681711
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001525946
RCV002528375
RCV003999123
RCV004023916
ClinVar Variation:
463626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala2354Thr
CA087269
NM_001035.3:c.7060G>A