ClinGen Allele Registry
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Canonical Allele Identifier:
PA121924
Gene: HSD3B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159592.1:p.Val248Asn
CA121923
NM_001166120.2:c.742_743delinsAA