Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573226567

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1349160

ClinVar RCV Id: RCV002035140

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Leu489Phe	CA371655798 NM_002485.5:c.1465C>T