ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916054995
Gene: HKDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225703
ClinVar RCV Id:
RCV000491251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079406.4:p.Gly284Ser
CA5531353
NM_025130.4:c.850G>A