ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827321519
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001135
RCV000201757
ClinVar Variation:
1080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Ser659Pro
CA210651
NM_001330538.2:c.1975T>C