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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.[Phe1147_Asn1166delinsLeuSerGlyIleSerLeuLeuCysTrpArgSerSerProSerSerAlaPheSerMet;Leu1168_Leu1171delinsTrpPheCysPhe;Val1173_Leu1174delinsCysPheCys;Phe1177_Phe1178del]
CA2499220028
NM_000264.5:c.3441_3444del