Allele Registry

Canonical Allele Identifier: PA2573166212

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Asn1348Lys	CA374110424 NM_000264.5:c.4044C>G CA374110425 NM_000264.5:c.4044C>A