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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.[Asp1109_Leu1116delinsGlyArgGlnGluProGlnGlyCys;Leu1118_Asp1127delinsCysProGlyAlaHisValCysThrArgPro;Ala1129_Leu1134delinsTrpArgArgValHisSerAla;Val1136_Met1138delinsSerAlaAsp]
CA2695210760
NM_001083603.3:c.3322_3325dup