Canonical Allele Identifier: PA2828034552
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452343
ClinVar RCV Id: RCV003172437
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Glu1092Asp
CA374111685
NM_001354918.1:c.3276G>T
CA374111686
NM_001354918.1:c.3276G>C