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
ENSP00000518556.1:p.Thr350Ser
CA161759
ENST00000711046.1:c.1049C>G
CA374118907
ENST00000711046.1:c.1048A>T