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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.5:p.[Leu480Cys;Gly482Asp;Pro484_Gly497delinsLeuAlaSerValValAspLeuValAlaValValSerLeu;Asp499_Gly500delinsGlnMet;Ala502_Gly503delinsLeuLeuVal;Lys505_Gly506delinsArgVal;Ala508_Gly509delinsLeuVal]
CA2697560409
ENST00000225964.9:c.1438del