Allele Registry

Canonical Allele Identifier: PA2825507830

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008703

ClinVar Variation:

8220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077074.1:p.Arg963Trp	CA119388 NM_001083605.3:c.2887A>T