Canonical Allele Identifier: PA645465210
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 230202
ClinVar RCV Id: RCV000213612
ClinVar Variation Id: 1063928
ClinVar RCV Id: RCV001373822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Val47Leu
CA10578811
NM_002485.5:c.139G>T
CA371663008
NM_002485.5:c.139G>C