Canonical Allele Identifier: PA203012
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 197670
ClinVar RCV Id: RCV000178770 RCV000954915 RCV000787859 RCV003888635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000431.2:p.Pro293Leu
CA203011
NM_000440.3:c.878C>T