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_005252159.1:p.Phe994Leu
CA374111677
XM_005252102.2:c.2982C>G
CA374111678
XM_005252102.2:c.2982C>A
CA374111683
XM_005252102.2:c.2980T>C