Allele Registry

Canonical Allele Identifier: PA098473

Gene: NR5A1 HGNC NCBI

ClinVar RCV:

RCV001551809

RCV003105833

RCV003977699

ClinVar Variation:

242720

HGVS (amino-acid)	Matching Registered Transcripts
NP_004950.2:p.Pro129Leu	CA034644 NM_004959.5:c.386C>T