Canonical Allele Identifier: PA2825512083
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230932
ClinVar RCV Id: RCV004523046

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Tyr222Cys
CA374119428
NM_001083607.3:c.665A>G