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Canonical Allele Identifier: Get Identifier
Gene: COL3A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000315243.6:p.[Asn287_Gly297delinsMetValPheGlnAlaLysMetGluLeuLeuAsp;Met299_Arg302delinsTrpValGlnGlu;Ala304_Gly306delinsLeuLeuValSer;Arg308Asp;Arg310_Gly312delinsGlnAspPhe;Pro314del;Ala316Leu]
CA2662287834
ENST00000317840.9:c.860del