Canonical Allele Identifier: PA2825122006
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036629
ClinVar RCV Id: RCV001339667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.His1121Leu
CA374111824
NM_000264.5:c.3362A>T