ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063916301
Gene: HSD3B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000189.1:p.Val248Asn
CA121923
NM_000198.4:c.742_743delinsAA