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: PA2825793506

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11593

ClinVar RCV Id: RCV000012351 RCV000055631

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135935.1:p.Ile38Thr	CA264769 NM_001142463.2:c.113T>C