ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672259
Gene: RHO
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000530.1:p.Gln344Glu
CA354471262
NM_000539.3:c.1030C>G