ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683933
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
942252
ClinVar RCV Id:
RCV001212202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Arg560His
CA2794631
NM_001145291.2:c.1679G>A