Allele Registry

Canonical Allele Identifier: PA2825495310

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008705

RCV000034564

RCV000078462

RCV000206005

RCV000568375

RCV002504769

ClinVar Variation:

8222

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077072.1:p.Thr727Met	CA145935 NM_001083603.3:c.2180C>T