Canonical Allele Identifier: PA109172
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 13111
ClinVar RCV Id: RCV000013990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000431.2:p.Ser344Arg
CA256727
NM_000440.3:c.1032C>A
CA361698804
NM_000440.3:c.1032C>G
CA361698810
NM_000440.3:c.1030A>C