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: PA2825793501

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11582

ClinVar RCV Id: RCV000012338

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135935.1:p.Phe36Val	CA341107 NM_001142463.2:c.106T>G