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
ENSP00000332353.6:p.Trp844Arg
CA374113780
ENST00000331920.11:c.2530T>C
CA374113782
ENST00000331920.11:c.2530T>A