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: PA2825989666

Gene: NEB HGNC NCBI

Linked Data

ClinVar Variation Id: 2051453

ClinVar RCV Id: RCV002927263 RCV003128875

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157980.2:p.Arg2644Trp	CA1909725 NM_001164508.2:c.7930C>T