ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817449
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195457
ClinVar RCV Id:
RCV000176031
RCV000259243
RCV000314427
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Val503Met
CA241888
NM_001379247.1:c.1507G>A