ClinGen Allele Registry
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Canonical Allele Identifier:
PA645493831
Gene: NR5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436031
ClinVar RCV Id:
RCV000500900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004950.2:p.Arg69Phe
CA645372871
NM_004959.5:c.205_206delinsTT