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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257116.2:p.[Arg304_Gly305delinsValAlaCys;Pro307_Gly308delinsValArg;Arg310_Arg312delinsValAlaLeuGlu;Gly314Leu;Pro316_Pro321delinsLeuLeuValProLeu;Gly323Arg;Arg325_Pro330delinsValAsnLysAlaLeuLeu;Gly332_Ser333delinsPro]
CA2573154217
XM_005257059.4:c.910del