ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817266
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194164
ClinVar RCV Id:
RCV000174465
RCV001376288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Gly283Asp
CA240006
NM_001379247.1:c.848G>A