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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.[Trp77_Ile78insMetAspGln;Arg79delinsIleGluTyrLeuTyrProCysLeuIleIleThrProLeuAspCysPheTrpGluGlyAlaLysLeuGlnSerGlyThrAlaTyr]
CA2573053210
ENST00000550914.6:c.230_233dup