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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000450047.1:p.[Gln74_Trp77delinsArgLeuHisGlySerAspAsnArg;Ile78_Arg79insSerLeuProLeuPheAspTyrTyrThrPheGlyLeuLeuLeuGly;Arg79_Ter80insGlyGluIleThrVal]
CA2499220085
ENST00000550914.6:c.221del