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: PA230728

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127008

ClinVar RCV Id: RCV000114874

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Asp527Tyr	CA230726 NM_002485.5:c.1579G>T