Canonical Allele Identifier: PA2825505862
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497340
ClinVar RCV Id: RCV003213795

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Glu57Gly
CA374115077
NM_001083605.3:c.170A>G