Canonical Allele Identifier: PA2825507828
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220503
ClinVar RCV Id: RCV000204267 RCV001020029
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Arg962His
CA348509
NM_001083605.3:c.2885G>A