Allele Registry

Canonical Allele Identifier: PA2825335588

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000164543

RCV000424535

RCV000589243

RCV001030565

RCV001081367

RCV001357000

RCV001524723

ClinVar Variation:

185174

1171527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Phe521Leu	CA191232 NM_001024688.3:c.1563C>A CA371655043 NM_001024688.3:c.1563C>G CA371655047 NM_001024688.3:c.1561T>C