Allele Registry

Canonical Allele Identifier: PA2499230531

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Ser554Arg	CA374118009 NM_000264.5:c.1662C>G CA374118010 NM_000264.5:c.1662C>A CA374118014 NM_000264.5:c.1660A>C