Allele Registry

Canonical Allele Identifier: PA2825491032

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000466958

RCV002374779

ClinVar Variation:

409178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077071.1:p.Pro1249His	CA5137995 NM_001083602.3:c.3746C>A