Canonical Allele Identifier: PA2741832406
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678089
ClinVar RCV Id: RCV003463391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Ile997Asn
CA374111659
NM_001083607.3:c.2990T>A