ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105650
Gene: HSD17B3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005153
RCV000514552
RCV000584139
ClinVar Variation:
4877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000188.1:p.Arg80Trp
CA117114
NM_000197.2:c.238C>T