ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826934411
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2178396
ClinVar RCV Id:
RCV002614853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Leu779Phe
CA395914840
NM_001308334.3:c.2335C>T