Canonical Allele Identifier: PA2825122013
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019544
ClinVar RCV Id: RCV001318990 RCV002456429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Met1122Lys
CA196571104
NM_000264.5:c.3365T>A