ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828166966
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345637
ClinVar RCV Id:
RCV000275333
RCV001270605
RCV002520133
RCV003912457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352045.1:p.Arg758Gln
CA2360612
NM_001365116.2:c.2273G>A