Allele Registry

Canonical Allele Identifier: PA2825988597

Gene: NEB HGNC NCBI

ClinVar RCV:

RCV000667229

ClinVar Variation:

552036

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157980.2:p.Val1491Leu	CA348815435 NM_001164508.2:c.4471G>T CA348815436 NM_001164508.2:c.4471G>C