ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817235
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143066
ClinVar RCV Id:
RCV000132574
RCV001857472
RCV003888537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Glu247Lys
CA270008
NM_001379247.1:c.739G>A