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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517173.1:p.[Phe996_Asn1015delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1017_Leu1020delinsTrpPheCysPhe;Val1022_Leu1023delinsCysPheCys;Phe1026_Phe1027del]
CA2499220028
XM_011518871.1:c.2988_2991del