ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913200647
Gene: LDB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073584.1:p.Arg315Cys
NM_001080115.2:c.943C>T