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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.[Pro558_Gly560delinsLeuLeuVal;Pro561_Ala562insLeu;Gly563Arg;Arg565_Pro570delinsValAsnLysAlaLeuLeu;Gly572_Gly578delinsProProAspSerArgValSer;Pro580_Gly587delinsValLeuLeuValLeuGlnVal]
CA2580094388
XM_011524341.1:c.1673del