Canonical Allele Identifier: PA2825488303
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389591

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Ile319Val
CA16605583
NM_001083602.3:c.955A>G