Allele Registry

Canonical Allele Identifier: PA2741813780

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Phe974Leu	CA5138282 NM_000264.5:c.2922C>G CA374112775 NM_000264.5:c.2922C>A CA374112780 NM_000264.5:c.2920T>C