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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.[Ala1123Asp;Val1125_Gly1128delinsSerTrpMet;Val1130_Thr1132delinsProCysPro;Leu1134_Ser1142delinsCysTrp;Phe1144_Phe1152delinsCys]
CA2695210759
NM_001083603.3:c.3368del