ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825124671
Gene: RPE65
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Val19Met
CA340750220
NM_000329.3:c.55G>A