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: PA2825334420

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 140805

ClinVar RCV Id: RCV000128984 RCV000486252 RCV000199629 RCV003315230 RCV003474742

ClinVar Variation Id: 1752959

ClinVar RCV Id: RCV002354042

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Asp129Glu	CA163608 NM_001024688.3:c.387T>A CA371659184 NM_001024688.3:c.387T>G