ClinGen Allele Registry
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Canonical Allele Identifier:
PA206391
Gene: RPGRIP1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
208288
ClinVar RCV:
RCV000193122
RCV000861107
RCV001120942
RCV001120943
RCV001120944
RCV001271340
RCV001699228
RCV004020339
ClinVar Variation:
212064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ile178Val
CA206389
NM_015272.2:c.532A>G