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_011517175.1:p.Asp496Glu
CA196585882
XM_011518873.1:c.1488C>A
CA374114587
XM_011518873.1:c.1488C>G