Canonical Allele Identifier: PA1139678501
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960138
ClinVar RCV Id: RCV001233608 RCV003166434 RCV003462793
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Leu983Val
CA374111748
NM_001083607.3:c.2947C>G