ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580390039
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2170935
ClinVar RCV Id:
RCV003080801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Gly787Asp
CA395914786
NM_015272.2:c.2360G>A