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.Asp727Glu
CA5138358
ENST00000418258.5:c.2181C>A
CA374113423
ENST00000418258.5:c.2181C>G