ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501535
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235333
ClinVar RCV Id:
RCV000224936
RCV000272739
RCV000321854
RCV000364967
RCV001280344
RCV001854774
RCV002500747
RCV002519757
RCV004529383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Tyr579Cys
CA8057711
NM_015272.2:c.1736A>G