Canonical Allele Identifier: PA1139692770
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 866215
ClinVar RCV Id: RCV001074034 RCV001305596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000431.2:p.Met612Ile
CA3504527
NM_000440.3:c.1836G>A
CA361693643
NM_000440.3:c.1836G>T
CA361693644
NM_000440.3:c.1836G>C