ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825793819
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459580
ClinVar RCV Id:
RCV000546953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Ile347Val
CA414894870
NM_001142463.2:c.1039A>G