Allele Registry

Canonical Allele Identifier: PA119391

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000008703

ClinVar Variation:

8220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077071.1:p.Arg1048Trp	CA119388 NM_001083602.3:c.3142A>T