ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101187
Gene: RDH12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2056
ClinVar RCV Id:
RCV000002137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689656.2:p.Ser175Pro
CA252089
NM_152443.2:c.523T>C