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
ENSP00000396135.1:p.Glu573Asp
CA5138441
ENST00000418258.5:c.1719G>C
CA374115449
ENST00000418258.5:c.1719G>T