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: PA343249

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38952

ClinVar RCV Id: RCV000032203 RCV000634503 RCV001573922 RCV004018698

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354.1:p.Ser280Arg	CA343247 NM_001363.5:c.838A>C CA414891347 NM_001363.5:c.840T>A CA414891349 NM_001363.5:c.840T>G