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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257115.2:p.[Ala463_Gly464delinsLeu;Glu466_Gly467delinsArg;Arg469_Gly473delinsGluSerGluGluLeu;Pro475_Gly476delinsValAsn;Thr478_Gly479delinsAspPro;Pro481_Gly482delinsAlaCys;Pro483_Pro484insAsp;Gly485_Ser492delinsLeuAlaSerValValAspLeuVal]
CA2695226653
XM_005257058.4:c.1386del