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: PA645474233

Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383741

ClinVar RCV Id: RCV000441110

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_113584.3:p.Arg4330Ser	CA16608949 NM_031407.7:c.12990G>C CA413143720 NM_031407.7:c.12990G>T