ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934734
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Thr1192Ile
CA16620212
NM_001308334.3:c.3575C>T