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
NP_001077071.1:p.Thr1067Ser
CA374111752
NM_001083602.3:c.3200C>G
CA374111753
NM_001083602.3:c.3199A>T