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
ENSP00000364423.2:p.Asp1145Glu
CA374111670
ENST00000375274.6:c.3435C>G
CA374111671
ENST00000375274.6:c.3435C>A