Canonical Allele Identifier: PA239325
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 193717
ClinVar RCV Id: RCV000339807 RCV000307599 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Lys386Glu
CA239324
NM_001127897.1:c.1156A>G