ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111127
Gene: RDH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001186700.1:p.Val177Gly
NM_001199771.1:c.530T>G