ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206391
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ile178Val
CA206389
NM_015272.2:c.532A>G