ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497735
Gene: HSD17B3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000249456
RCV000334343
RCV001651113
ClinVar Variation:
255511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000188.1:p.Gly289Ser
CA5140237
NM_000197.2:c.865G>A