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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517170.1:p.[Phe1095_Asn1114delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1116_Leu1119delinsTrpPheCysPhe;Val1121_Leu1122delinsCysPheCys;Phe1125_Phe1126del]
CA2499220028
XM_011518868.1:c.3285_3288del