ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828732193
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312798
ClinVar RCV Id:
RCV000318829
RCV000378099
RCV001298333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364878.1:p.Leu384Phe
CA7089404
NM_001377949.1:c.1150C>T