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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447008.1:p.[Gln67_Cys75delinsGlySerAspAsnArgIleSer;Ile77_Thr79del;Leu81_Asp82insPhe;Cys83_Glu86delinsTyrTyrThrPhe;Ala88_Lys89delinsLeuLeu;Gln91_Ser92delinsGlyArg;Gly93_Thr94insGluIle;Ala95_Tyr96delinsValTrpAspSerIle]
CA2573053210
ENST00000551845.5:c.195_198dup