Canonical Allele Identifier: PA2825122095
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678089
ClinVar RCV Id: RCV003463391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ile1148Asn
CA374111659
NM_000264.5:c.3443T>A