Allele Registry

Canonical Allele Identifier: PA2826727422

Gene: REPS1 HGNC NCBI

ClinVar RCV:

RCV000595242

RCV000709993

ClinVar Variation:

503504

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273541.1:p.Ala113Glu	CA4024478 NM_001286612.2:c.338C>A