ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830054090
Gene: HKDC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079406.4:p.Tyr417Cys
CA376924677
NM_025130.4:c.1250A>G