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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000518556.1:p.[Phe1081_Asn1100delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1102_Leu1105delinsTrpPheCysPhe;Val1107_Leu1108delinsCysPheCys;Phe1111_Phe1112del]
CA2499220028
ENST00000711046.1:c.3243_3246del