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: PA2828563047

Gene: CUL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2237685

ClinVar RCV Id: RCV002762072

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361802.1:p.Asp387His	CA364226848 NM_001374873.1:c.1159G>C