Allele Registry

Canonical Allele Identifier: PA101140

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008705

RCV000034564

RCV000078462

RCV000206005

RCV000568375

RCV002504769

ClinVar Variation:

8222

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Thr728Met	CA145935 NM_000264.5:c.2183C>T