Canonical Allele Identifier: PA2825497235
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452343
ClinVar RCV Id: RCV003172437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Glu1143Asp
CA374111685
NM_001083603.3:c.3429G>T
CA374111686
NM_001083603.3:c.3429G>C