Canonical Allele Identifier: PA2827495835
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 13106
ClinVar RCV Id: RCV000013985 RCV000132576 RCV001851841 RCV003887867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337084.1:p.His172Tyr
CA256720
NM_001350155.3:c.514C>T