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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000389744.2:p.[Phe1146_Asn1165delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1167_Leu1170delinsTrpPheCysPhe;Val1172_Leu1173delinsCysPheCys;Phe1176_Phe1177del]
CA2499220028
ENST00000437951.6:c.3438_3441del