Allele Registry

Canonical Allele Identifier: PA2825497089

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008703

ClinVar Variation:

8220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077072.1:p.Arg1113Trp	CA119388 NM_001083603.3:c.3337A>T