Canonical Allele Identifier: PA2828732711
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312797
ClinVar RCV Id: RCV000262975 RCV000371567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364880.1:p.Met179Leu
CA10643901
NM_001377951.1:c.535A>T
CA388871953
NM_001377951.1:c.535A>C