ClinGen Allele Registry
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Canonical Allele Identifier:
PA132929
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000036670
RCV000378772
RCV000766732
RCV001093785
RCV001182008
RCV002482980
RCV003996246
RCV004018804
ClinVar Variation:
43718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Phe4016Tyr
CA007324
NM_001035.3:c.12047T>A