Canonical Allele Identifier: PA1139706268
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 962675
ClinVar RCV Id: RCV001236570 RCV002447181 RCV003473810
ClinVar Variation Id: 1764804
ClinVar RCV Id: RCV002373770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Met294Ile
CA371658230
NM_002485.5:c.882G>T
CA371658232
NM_002485.5:c.882G>C
CA371658234
NM_002485.5:c.882G>A