Allele Registry

Canonical Allele Identifier: PA2825498458

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077072.1:p.Asn1347Lys	CA374110424 NM_001083603.3:c.4041C>G CA374110425 NM_001083603.3:c.4041C>A