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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517175.1:p.[Phe867_Asn886delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu888_Leu891delinsTrpPheCysPhe;Val893_Leu894delinsCysPheCys;Phe897_Phe898del]
CA2499220028
XM_011518873.1:c.2601_2604del