ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916067558
Gene: DHTKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061176.4:p.Ala517Val
CA5407882
NM_018706.7:c.1550C>T