Allele Registry

Canonical Allele Identifier: PA2828035318

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000466958

RCV002374779

ClinVar Variation:

409178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341847.1:p.Pro1263His	CA5137995 NM_001354918.1:c.3788C>A