Canonical Allele Identifier: PA2580443543
Gene: RPGRIP1 HGNC NCBI
ClinVar RCV:
RCV003019892
ClinVar Variation:
2108994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065099.3:p.Ala139Thr
CA7088652
NM_020366.4:c.415G>A