ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913200102
Gene: HSD3B7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
594920
ClinVar RCV Id:
RCV000730322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079469.2:p.Leu189Phe
CA395641222
NM_025193.4:c.565C>T