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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517176.1:p.[Ile210del;Glu212_Asp217delinsGlnLys;Ile219_Ile229delinsVal;Pro231_Phe235del;Glu237_Ala239delinsIleArg]
CA1139770813
XM_011518874.1:c.629del