Canonical Allele Identifier: PA658677499
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453823
ClinVar RCV Id: RCV000544815 RCV002448594 RCV002481742
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Met803Thr
CA374114313
NM_000264.5:c.2408T>C