ClinGen Allele Registry
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Canonical Allele Identifier:
PA645498460
Gene: HSD17B4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493335
RCV000671323
RCV001856978
RCV002282178
RCV004541543
ClinVar Variation:
430263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000405.1:p.Arg248His
CA3381977
NM_000414.4:c.743G>A