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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.[Gly317_Gly320delinsAlaLeuLeuVal;Ala322_Glu324delinsLeuAla;Gly326del;Gln328_Pro330delinsValAsnLys;Gly332_Ser333delinsLeuLeuAla;Gly335_Pro346delinsProAspSerArgValSerLeuValLeuLeuValLeu]
CA2695226688
XM_005257059.4:c.948del