Canonical Allele Identifier: PA2828817443
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 349392
ClinVar RCV Id: RCV000339477 RCV000404018 RCV000678595 RCV001091293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366176.1:p.Asp497Asn
CA2795009
NM_001379247.1:c.1489G>A