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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.[Ala1075_Asn1100delinsArgAspLeuSerSerThrSerLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1102_Leu1104delinsTrpPheCys]
CA2573144874
ENST00000711046.1:c.3223del