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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510238.1:p.[Ala990_Asn1015delinsArgAspLeuSerSerThrSerLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1017_Leu1019delinsTrpPheCys]
CA2573144874
ENST00000692981.1:c.2968del