Allele Registry

Canonical Allele Identifier: PA2828034426

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008703

ClinVar Variation:

8220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341847.1:p.Arg1062Trp	CA119388 NM_001354918.1:c.3184A>T