ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671516
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485924
ClinVar RCV Id:
RCV000570614
RCV001339323
RCV000764788
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Thr144Ile
CA371661706
NM_002485.5:c.431C>T