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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509379.1:p.[Tyr228_Tyr230delinsValArg;Ser232_Asn237delinsCysLeuThrHisGlnLeu;Asp239_His257delinsArgGlyGlnSerGlySerHisProGlyGlyLeuAlaGluAspIleCysGlyGlyGlySer]
CA2695210935
ENST00000690194.1:c.681dup