ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306858
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201254
ClinVar RCV Id:
RCV000182731
RCV002336457
RCV002515328
RCV003318367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu1724Lys
CA009802
NM_001035.3:c.5170G>A