Canonical Allele Identifier: PA2827321780
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 194767
ClinVar RCV Id: RCV000175209 RCV000514096 RCV001120642 RCV001120643 RCV001082641 RCV001120644 RCV004537378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Asn881Lys
CA201346
NM_001330538.2:c.2643T>A
CA395914153
NM_001330538.2:c.2643T>G