Canonical Allele Identifier: PA2828034518
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428842
ClinVar RCV Id: RCV000492191 RCV001036728
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Leu1083Pro
CA374111741
NM_001354918.1:c.3248T>C