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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000450131.1:p.[Gln67_Cys75delinsGlySerAspAsnArgIleSerLeuPro;Ile77_Glu86delinsPheAspTyrTyrThrPheGlyLeuLeuLeu;Ala88_Ser92delinsArgGlyGluIleThrVal]
CA2573053210
ENST00000551630.1:c.195_198dup