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Canonical Allele Identifier: Get Identifier
Gene: COL18A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_569711.2:p.[Ser1351_Leu1352delinsAlaCys;Gly1354Ala;Gly1357Ala;Pro1359_Pro1365delinsGlnAlaHisValAlaThrLeu;Ile1367_Gly1369delinsPheGlnVal;Lys1371_Gly1372delinsArg;Ser1374_Arg1376delinsArgAlaSer;Gln1378_Gly1380delinsAlaSerPro]
CA2577627019
NM_130444.2:c.4050del