ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580121313
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2144737
ClinVar RCV Id:
RCV003063083
RCV004070348
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Leu274Val
CA345383722
NM_001035.3:c.820C>G