ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573173481
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1363465
ClinVar RCV Id:
RCV002550298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Cys158del
CA2580611239
NM_001035.3:c.474_476del