ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825793531
Gene: DKC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Thr49Met
CA156187
NM_001142463.2:c.146C>T