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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.6:p.[Pro604_Ala606delinsLeuAlaLeuSer;Gly608_Pro609delinsLeuLeu;Gly611del;Asp613_Gly620delinsMetGluArgLeuGluLeuArgAsp;Pro622_Gly626delinsLeuAlaLeuLeuVal;Pro627_Ala628insLeu;Gly629Arg;Arg631_Glu633delinsValAsn]
CA1139768929
ENST00000225964.10:c.1811del