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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.[Gly416Asp;Pro418_Gly431delinsLeuAlaSerValValAspLeuValAlaValValSerLeu;Asp433_Gly434delinsGlnMet;Ala436_Gly437delinsLeuLeuVal;Lys439_Gly440delinsArgVal;Ala442_Glu444delinsLeuVal]
CA2638710351
XM_011524341.1:c.1242del