ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817243
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849300
ClinVar RCV Id:
RCV001053231
RCV003890195
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Pro257Ser
CA2794589
NM_001379247.1:c.769C>T