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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011522643.1:p.[Gly401_Glu408delinsLeuGluValAsn;Gly410Asp;Thr412_Leu414delinsLeuAlaCys;Gly416Asp;Pro418_Gly431delinsLeuAlaSerValValAspLeuValAlaValValSerLeu;Asp433_Gly434delinsGlnMet]
CA2573154188
XM_011524341.1:c.1200_1212del