Canonical Allele Identifier: PA2825497201
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966913
ClinVar Variation Id: 1012621
ClinVar RCV Id: RCV001310664

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Gly1135Arg
CA374111738
NM_001083603.3:c.3403G>C
CA374111739
NM_001083603.3:c.3403G>A