ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828816997
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349391
ClinVar RCV Id:
RCV000303010
RCV000392694
RCV000931351
RCV003888835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Ala486Pro
CA2794998
NM_001379246.1:c.1456G>C