Canonical Allele Identifier: PA2828817240
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 349381
ClinVar RCV Id: RCV000294425 RCV000349329 RCV001240311 RCV003168538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366176.1:p.Arg252Gln
CA2794585
NM_001379247.1:c.755G>A