Allele Registry

Canonical Allele Identifier: PA658816406

Gene: REPS1 HGNC NCBI

ClinVar RCV:

RCV000592202

ClinVar Variation:

503503

HGVS (amino-acid)	Matching Registered Transcripts
NP_114128.3:p.Val78Leu	CA365815579 NM_031922.5:c.232G>C