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
ENSP00000410287.2:p.Asp324Glu
CA374119300
ENST00000430669.6:c.972C>G
CA374119301
ENST00000430669.6:c.972C>A