ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580443543
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2108994
ClinVar RCV Id:
RCV003019892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Ala139Thr
CA7088652
NM_020366.4:c.415G>A