ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827322112
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Val1154Met
CA8057257
NM_001330538.2:c.3460G>A