ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825793471
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960459
ClinVar RCV Id:
RCV001233988
RCV002497802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Lys17del
CA10566953
NM_001142463.2:c.45_47del