ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828524734
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_001361427.1:p.Arg199Trp
CA3381885
NM_001374498.1:c.595C>T