ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825886299
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2719392
ClinVar RCV Id:
RCV003553625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138764.2:p.Glu259Lys
CA2794591
NM_001145292.2:c.775G>A