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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.[Ala1124Asp;Val1126_Gly1129delinsSerTrpMet;Val1131_Thr1133delinsProCysPro;Leu1135_Ser1143delinsCysTrp;Phe1145_Phe1153delinsCys]
CA2695210759
NM_000264.5:c.3371del