Canonical Allele Identifier: PA2825492239
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453908
ClinVar RCV Id: RCV000526834

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Cys202Tyr
CA374115112
NM_001083603.3:c.605G>A