ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105991
Gene: HSD3B2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012975
RCV001039417
RCV002222349
ClinVar Variation:
12192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000189.1:p.Thr259Met
CA121935
NM_000198.4:c.776C>T