Canonical Allele Identifier: PA2828732483
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312798
ClinVar RCV Id: RCV000318829 RCV000378099 RCV001298333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364879.1:p.Leu348Phe
CA7089404
NM_001377950.1:c.1042C>T