Canonical Allele Identifier: PA2828034501
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646094
ClinVar RCV Id: RCV000800312 RCV001815437
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ser1080Phe
CA374111756
NM_001354918.1:c.3239C>T