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_011517172.1:p.Asp239Glu
CA374119300
XM_011518870.1:c.717C>G
CA374119301
XM_011518870.1:c.717C>A