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: PA190137

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 184816

ClinVar RCV Id: RCV000164141 RCV000197233 RCV001354892 RCV003467286

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Leu489Val	CA190135 NM_002485.5:c.1465C>G