Allele Registry

Canonical Allele Identifier: PA2827278136

Gene: KIAA0586 HGNC NCBI

ClinVar RCV:

RCV000533867

RCV004024331

ClinVar Variation:

475436

HGVS (amino-acid)	Matching Registered Transcripts
NP_001316873.1:p.Val349Ile	CA7205542 NM_001329944.2:c.1045G>A