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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510238.1:p.Trp248Cys
CA374119245
ENST00000692981.1:c.744G>T
CA374119246
ENST00000692981.1:c.744G>C