Canonical Allele Identifier: PA2825493668
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Ala450Thr
CA5138668
NM_001083603.3:c.1348G>A
CA2695239792
NM_001083603.3:c.1347_1348delinsAA