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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000332353.6:p.[Asp1110_Leu1117delinsGlyArgGlnGluProGlnGlyCys;Leu1119_Asp1128delinsCysProGlyAlaHisValCysThrArgPro;Ala1130_Leu1135delinsTrpArgArgValHisSerAla;Val1137_Met1139delinsSerAlaAsp]
CA2695210760
ENST00000331920.11:c.3325_3328dup