Canonical Allele Identifier: PA2825507900
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428843
ClinVar RCV Id: RCV000492461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Phe996Ser
CA374111664
NM_001083605.3:c.2987T>C