Canonical Allele Identifier: PA916054750
Gene: CEP290 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu1568Asp
CA385994330
NM_025114.4:c.4704G>C
CA385994333
NM_025114.4:c.4704G>T