Canonical Allele Identifier: PA2828034544
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626237
ClinVar RCV Id: RCV003382217

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ser1091Cys
CA374111695
NM_001354918.1:c.3272C>G