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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.[Pro624_Gly626delinsLeuLeuVal;Pro627_Ala628insLeu;Gly629Arg;Arg631_Pro636delinsValAsnLysAlaLeuLeu;Gly638_Gly644delinsProProAspSerArgValSer;Pro646_Gly653delinsValLeuLeuValLeuGlnVal]
CA2580094388
XM_005257058.4:c.1871del