Canonical Allele Identifier: PA2826934504
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 194767
ClinVar RCV Id: RCV000175209 RCV000514096 RCV001120642 RCV001120643 RCV001082641 RCV001120644 RCV004537378
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295263.1:p.Asn881Lys
CA201346
NM_001308334.3:c.2643T>A
CA395914153
NM_001308334.3:c.2643T>G