ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827321183
Gene: RPGRIP1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190880
ClinVar RCV:
RCV000307599
RCV000339807
RCV000401583
RCV000697464
RCV000724780
RCV000765297
RCV001271337
RCV002516602
RCV004539604
ClinVar Variation:
193717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Lys386Glu
CA239324
NM_001330538.2:c.1156A>G