Canonical Allele Identifier: PA348511
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220503

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Arg1047His
CA348509
NM_001083602.3:c.3140G>A