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: PA658816540

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 530757

ClinVar RCV Id: RCV000636770 RCV001192339

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Lys219Arg	CA4802914 NM_002485.5:c.656A>G