Canonical Allele Identifier: PA2828166800
Gene: NBEAL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 31118
ClinVar RCV Id: RCV000024114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352045.1:p.Leu354Pro
CA129687
NM_001365116.2:c.1061T>C