ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828816832
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3027618
ClinVar RCV Id:
RCV003890872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Phe291Ser
CA355917061
NM_001379246.1:c.872T>C