ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828167186
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345660
ClinVar RCV Id:
RCV000264755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352045.1:p.Gly1341Ser
CA2361148
NM_001365116.2:c.4021G>A