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
ENSP00000449745.1:p.Gln130His
CA374115161
ENST00000468211.6:c.390G>T
CA374115162
ENST00000468211.6:c.390G>C