ClinGen Allele Registry
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Canonical Allele Identifier:
PA645390351
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219918
RCV001186886
RCV002372231
RCV002518200
RCV003997756
ClinVar Variation:
229227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Met3246Val
CA087949
NM_001035.3:c.9736A>G