Canonical Allele Identifier: PA2828031688
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753216
ClinVar RCV Id: RCV002354092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Thr213Arg
CA374115044
NM_001354918.1:c.638C>G