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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.[Ala973Asp;Val975_Gly978delinsSerTrpMet;Val980_Thr982delinsProCysPro;Leu984_Ser992delinsCysTrp;Phe994_Phe1002delinsCys]
CA2695210759
NM_001083606.3:c.2918del