Canonical Allele Identifier: PA2825499527
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486211
ClinVar RCV Id: RCV000575113

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Lys54Gln
CA374115101
NM_001083604.3:c.160A>C