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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.[Pro477_Gly479delinsAspPro;Pro481_Gly482delinsAlaCys;Pro483_Pro484insAsp;Gly485_Gly497delinsLeuAlaSerValValAspLeuValAlaValValSerLeu;Asp499_Gly500delinsGlnMet;Ala502_Gly503delinsLeuLeuVal;Lys505Arg]
CA2573154186
NM_000088.4:c.1426_1427dup