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: PA2499261727

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1025470

ClinVar RCV Id: RCV001325784

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ser488Tyr	CA371655800 NM_002485.5:c.1463C>A