ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111004
Gene: RDH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008474
RCV001306377
RCV002247275
ClinVar Variation:
8010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186700.1:p.Arg157Trp
CA119210
NM_001199771.1:c.469C>T