Canonical Allele Identifier: PA2825793496
Gene: DKC1 HGNC NCBI
ClinVar RCV:
RCV000012352
ClinVar Variation:
11594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135935.1:p.Gln31Lys
CA341118
NM_001142463.2:c.91C>A