Canonical Allele Identifier: PA2825507906
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040725
ClinVar RCV Id: RCV001344416 RCV002456491
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Ile997Thr
CA374111658
NM_001083605.3:c.2990T>C