Canonical Allele Identifier: PA338693
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216380

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Val1116Glu
CA338689
NM_000264.5:c.3347T>A