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: PA2825335262

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 411763

ClinVar RCV Id: RCV001011702 RCV000473379

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser406Cys	CA16612477 NM_001024688.3:c.1217C>G