Allele Registry

Canonical Allele Identifier: PA2825503478

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077073.1:p.Phe823Leu	CA5138282 NM_001083604.3:c.2469C>G CA374112775 NM_001083604.3:c.2469C>A CA374112780 NM_001083604.3:c.2467T>C