Canonical Allele Identifier: PA1139675682
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg118Ser
CA340748033
NM_000329.3:c.354G>T
CA340748034
NM_000329.3:c.354G>C