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
XP_011517175.1:p.Met83Ile	CA374119497 XM_011518873.1:c.249G>T CA374119498 XM_011518873.1:c.249G>C CA374119499 XM_011518873.1:c.249G>A