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: PA2825334433

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 6948

ClinVar RCV Id: RCV000007363 RCV000121621 RCV000115802 RCV000487932 RCV003891431

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Arg133Trp	CA160990 NM_001024688.3:c.397C>T