Canonical Allele Identifier: PA2825507819
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Asp959His
CA374111895
NM_001083605.3:c.2875G>C