Canonical Allele Identifier: PA2580276606
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1764994
ClinVar RCV Id: RCV002376004
ClinVar Variation Id: 1803608
ClinVar RCV Id: RCV002467278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Met296Ile
CA371658187
NM_002485.5:c.888G>T
CA371658189
NM_002485.5:c.888G>C
CA371658192
NM_002485.5:c.888G>A