Canonical Allele Identifier: PA2825504069
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161355
ClinVar RCV Id: RCV000148762 RCV000570061 RCV003462056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Ala990Val
CA272946
NM_001083604.3:c.2969C>T