ClinGen Allele Registry
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Canonical Allele Identifier:
PA132997
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43822
ClinVar RCV Id:
RCV000036786
RCV001192361
RCV004018812
RCV002513437
RCV003996299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Asp2373Tyr
CA010545
NM_001035.3:c.7117G>T