Allele Registry

Canonical Allele Identifier: PA645507292

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000466958

RCV002374779

ClinVar Variation:

409178

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Pro1315His	CA5137995 NM_000264.5:c.3944C>A