ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828167495
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345683
ClinVar RCV Id:
RCV000281014
RCV000893189
RCV001270527
RCV001821049
RCV003910360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352045.1:p.Arg2255Gln
CA2361979
NM_001365116.2:c.6764G>A