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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517176.1:p.[Ala1124Asp;Val1126_Gly1129delinsSerTrpMet;Val1131_Thr1133delinsProCysPro;Leu1135_Ser1143delinsCysTrp;Phe1145_Arg1150del;Leu1152_Gln1153del]
CA2695210759
XM_011518874.1:c.3371del