Canonical Allele Identifier: PA2825513222
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221968
ClinVar RCV Id: RCV000207421 RCV000791706 RCV002433914 RCV003477709
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ile748Val
CA072669
NM_001083607.3:c.2242A>G