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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000332353.6:p.[Phe1147_Asn1166delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1168_Leu1171delinsTrpPheCysPhe;Val1173_Leu1174delinsCysPheCys;Phe1177_Phe1178del]
CA2499220028
ENST00000331920.11:c.3441_3444del