Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000448843.1:p.Met141Ile	CA5138830 ENST00000546820.5:c.423G>A CA374113909 ENST00000546820.5:c.423G>T CA374113911 ENST00000546820.5:c.423G>C