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
ENSP00000447797.1:p.Trp127_Gly174del
CA374114121
ENST00000553011.5:c.381G>A
CA374114130
ENST00000553011.5:c.380G>A