ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390886
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000484014
RCV003525913
ClinVar Variation:
419966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Lys3997Glu
CA16617108
NM_001035.3:c.11989A>G