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.Phe1147Leu
CA374111662
ENST00000331920.11:c.3441C>G
CA374111663
ENST00000331920.11:c.3441C>A
CA374111668
ENST00000331920.11:c.3439T>C