Canonical Allele Identifier: PA092129
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98870
ClinVar RCV Id: RCV000085200 RCV001250685
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Glu148Asp
CA226553
NM_000329.3:c.444G>T
CA340747683
NM_000329.3:c.444G>C