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: PA094335

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11587

ClinVar RCV Id: RCV000012343 RCV000464438

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354.1:p.Ala353Val	CA341116 NM_001363.5:c.1058C>T