Canonical Allele Identifier: PA2828031642
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872551
ClinVar RCV Id: RCV001093088

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Trp197Cys
CA374115153
NM_001354918.1:c.591G>T
CA374115154
NM_001354918.1:c.591G>C