ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068384550
Gene: RHO
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000530.1:p.Glu249Lys
CA354470274
NM_000539.3:c.745G>A