ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645493834
Gene: NR5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004950.2:p.Arg92Trp
CA10588831
NM_004959.5:c.274C>T