Canonical Allele Identifier: PA2825507832
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453848

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Val965Met
CA5138165
NM_001083605.3:c.2893G>A