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
ENSP00000389744.1:p.Phe1079Leu
CA374111677
ENST00000437951.5:c.3237C>G
CA374111678
ENST00000437951.5:c.3237C>A
CA374111683
ENST00000437951.5:c.3235T>C