Allele Registry

Canonical Allele Identifier: PA2825334645

Gene: NBN HGNC NCBI

ClinVar Allele:

212645

ClinVar RCV:

RCV000196198

RCV001017981

ClinVar Variation:

216569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Cys203Ser	CA336228 NM_001024688.3:c.608G>C CA371658386 NM_001024688.3:c.607T>A