Allele Registry

Canonical Allele Identifier: PA101018

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008703

ClinVar Variation:

8220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Arg1114Trp	CA119388 NM_000264.5:c.3340A>T