ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828524248
Gene: HSD17B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2044553
ClinVar RCV Id:
RCV002903774
RCV003317625
RCV003324053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361426.1:p.Arg196Trp
CA3381885
NM_001374497.1:c.586C>T