ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934546
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212062
ClinVar RCV Id:
RCV000194076
RCV000861106
RCV001117064
RCV001117062
RCV001117063
RCV001833139
RCV001698998
RCV002517128
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Ile936Ser
CA207998
NM_001308334.3:c.2807T>G