Canonical Allele Identifier: PA2825497101
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1719708
ClinVar RCV Id: RCV002296804
ClinVar Variation Id: 2154676
ClinVar RCV Id: RCV003081904

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Val1115Leu
CA374111856
NM_001083603.3:c.3343G>T
CA374111857
NM_001083603.3:c.3343G>C