ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499249526
Gene: HSD3B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001684992
ClinVar Variation:
1274004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001315544.1:p.Thr367Asn
CA1036549
NM_001328615.1:c.1100C>A