ClinGen Allele Registry
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Canonical Allele Identifier:
PA306775
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182619
RCV000509223
RCV001186512
RCV002381594
RCV003996725
ClinVar Variation:
201160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala440Val
CA007828
NM_001035.3:c.1319C>T