Canonical Allele Identifier: PA2825497218
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731228
ClinVar RCV Id: RCV002452208

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Leu1139Val
CA374111712
NM_001083603.3:c.3415C>G