Allele Registry

Canonical Allele Identifier: PA916003952

Gene: NEB HGNC NCBI

ClinVar RCV:

RCV000540531

RCV000724505

RCV002492794

RCV002516829

ClinVar Variation:

199223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258137.2:p.Val6288Ile	CA248313 NM_001271208.2:c.18862G>A