Allele Registry

Canonical Allele Identifier: PA105345

Gene: RPGRIP1 HGNC NCBI

ClinVar Allele:

20026

ClinVar RCV:

RCV000005275

RCV000086240

RCV000174586

RCV000272533

RCV000989171

RCV001511545

ClinVar Variation:

4987

HGVS (amino-acid)	Matching Registered Transcripts
NP_065099.3:p.Ala547Ser	CA201070 NM_020366.4:c.1639G>T