Canonical Allele Identifier: PA2825497251
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151484
ClinVar RCV Id: RCV003061362

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Arg1149Lys
CA374111649
NM_001083603.3:c.3446G>A