Canonical Allele Identifier: PA2828817475
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 13109
ClinVar RCV Id: RCV000013988 RCV001257886
ClinVar Variation Id: 1068671
ClinVar RCV Id: RCV001380304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366176.1:p.Trp528Arg
CA256723
NM_001379247.1:c.1582T>A
CA2795056
NM_001379247.1:c.1582T>C