ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660449
Gene: HSD3B2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487802
ClinVar RCV Id:
RCV000577852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159592.1:p.Arg335Gln
CA30212310
NM_001166120.2:c.1004G>A