Canonical Allele Identifier: PA191234
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 185174
ClinVar RCV Id: RCV000164543 RCV000424535 RCV000589243 RCV001030565 RCV001081367 RCV001357000
ClinVar Variation Id: 1171527
ClinVar RCV Id: RCV001524723
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Phe603Leu
CA191232
NM_002485.5:c.1809C>A
CA371655043
NM_002485.5:c.1809C>G
CA371655047
NM_002485.5:c.1807T>C