Allele Registry

Canonical Allele Identifier: PA2826727312

Gene: REPS1 HGNC NCBI

ClinVar RCV:

RCV000592202

ClinVar Variation:

503503

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273540.1:p.Val78Leu	CA365815579 NM_001286611.2:c.232G>C