Canonical Allele Identifier: PA658671441
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 480024
ClinVar RCV Id: RCV000566420 RCV000806996 RCV001770504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Met83Ile
CA371662480
NM_002485.5:c.249G>T
CA371662481
NM_002485.5:c.249G>C
CA371662482
NM_002485.5:c.249G>A