Canonical Allele Identifier: PA2827321301
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 1423357
ClinVar RCV Id: RCV001928778 RCV002484573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Glu492Asp
CA395919041
NM_001330538.2:c.1476A>T
CA395919043
NM_001330538.2:c.1476A>C