Canonical Allele Identifier: PA2828036786
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341848.1:p.Leu183_Ter184insGluValCysAspHisAlaPhe
CA374114784
NM_001354919.1:c.550T>G