Allele Registry

Canonical Allele Identifier: PA645493846

Gene: NR5A1 HGNC NCBI

ClinVar RCV:

RCV000413900

RCV000504282

RCV001662366

RCV002230747

ClinVar Variation:

372437

HGVS (amino-acid)	Matching Registered Transcripts
NP_004950.2:p.Arg313Cys	CA16042654 NM_004959.5:c.937C>T