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
ENSP00000364420.4:p.Val287Leu
CA5138490
ENST00000375271.4:c.859G>C
CA374116164
ENST00000375271.4:c.859G>T