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: PA2573226571

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1358453

ClinVar RCV Id: RCV001894221

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Glu491Gly	CA371655784 NM_002485.5:c.1472A>G