ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828167152
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3179117
ClinVar RCV Id:
RCV004467471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352045.1:p.Arg1246Gln
CA2361089
NM_001365116.2:c.3737G>A