ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111087
Gene: RDH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008468
RCV001851737
ClinVar Variation:
8004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186700.1:p.Ser73Phe
CA119198
NM_001199771.1:c.218C>T