Canonical Allele Identifier: PA658816690
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 530767
ClinVar RCV Id: RCV000636784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Val556Leu
CA4802692
NM_002485.5:c.1666G>T
CA371655361
NM_002485.5:c.1666G>C