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
XP_011517176.1:p.Lys746Asn
CA5138431
XM_011518874.1:c.2238A>T
CA374115210
XM_011518874.1:c.2238A>C