Allele Registry

Canonical Allele Identifier: PA916054903

Gene: AHI1 HGNC NCBI

ClinVar Allele:

214233

ClinVar RCV:

RCV000201540

ClinVar Variation:

217547

HGVS (amino-acid)	Matching Registered Transcripts
NP_060121.3:p.Trp787Cys	CA279355 NM_017651.5:c.2361G>T CA365743126 NM_017651.5:c.2361G>C