Allele Registry

Canonical Allele Identifier: PA2828033184

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008705

RCV000034564

RCV000078462

RCV000206005

RCV000568375

RCV002504769

ClinVar Variation:

8222

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341847.1:p.Thr676Met	CA145935 NM_001354918.1:c.2027C>T