Canonical Allele Identifier: PA2825492132
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Gln183His
CA337075
NM_001083603.3:c.549G>T
CA374116690
NM_001083603.3:c.549G>C