Canonical Allele Identifier: PA2828034254
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Phe1016Leu
CA5138214
NM_001354918.1:c.3048C>A
CA374112160
NM_001354918.1:c.3048C>G
CA374112165
NM_001354918.1:c.3046T>C