ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580337040
Gene: PDE6H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2015800
ClinVar RCV Id:
RCV002843581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006196.1:p.Pro38Thr
CA384024096
NM_006205.3:c.112C>A