Allele Registry

Canonical Allele Identifier: PA247750

Gene: AHI1 HGNC NCBI

ClinVar RCV:

RCV000250813

RCV000724880

RCV001155546

RCV001206260

RCV002517761

ClinVar Variation:

198882

HGVS (amino-acid)	Matching Registered Transcripts
NP_060121.3:p.Leu345Met	CA247748 NM_017651.5:c.1033T>A