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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.[Ala1140_Asn1165delinsArgAspLeuSerSerThrSerLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1167_Leu1169delinsTrpPheCys]
CA2573144874
NM_001083603.3:c.3418del