Allele Registry

Canonical Allele Identifier: PA2825513182

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077076.1:p.Asp727Glu	CA5138358 NM_001083607.3:c.2181C>A CA374113423 NM_001083607.3:c.2181C>G