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: PA2826719998

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11582

ClinVar RCV Id: RCV000012338

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001275676.1:p.Phe36Val