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: PA2825793531

Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11591

ClinVar RCV Id: RCV000012349 RCV000254868 RCV000816060

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135935.1:p.Thr49Met	CA156187 NM_001142463.2:c.146C>T