Canonical Allele Identifier: PA2825510901
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220370

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Ile997Val
CA350753
NM_001083606.3:c.2989A>G