ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573066131
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_001138763.2:p.Ala765Pro
CA2794998
NM_001145291.2:c.2293G>C