Canonical Allele Identifier: PA1139692660
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 957863
ClinVar RCV Id: RCV001230927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000431.2:p.Met546Arg
CA361695226
NM_000440.3:c.1637T>G