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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.5:p.[Gly596del;Arg598_Gly599delinsSerGlu;Pro601_Pro603delinsPheProAsp;Gly605Leu;Ala606_Val607insLeuSer;Gly608_Pro609delinsLeuLeu;Gly611del;Asp613_Gly620delinsMetGluArgLeuGluLeuArgAsp;Pro622_Ala625delinsLeuAlaLeuLeu]
CA2695226634
ENST00000225964.9:c.1787del