ClinGen Allele Registry
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Canonical Allele Identifier:
PA645389849
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000620494
RCV001184262
RCV002488999
RCV002522785
RCV004000622
ClinVar Variation:
404215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val2452Met
CA087378
NM_001035.3:c.7354G>A