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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.[Pro622_Gly626delinsArgAlaLeuLeuVal;Ala628_Glu630delinsLeuAla;Gly632del;Gln634_Pro636delinsValAsnLys;Gly638_Ser639delinsLeuLeuAla;Gly641_Pro652delinsProAspSerArgValSerLeuValLeuLeuValLeu]
CA915950610
NM_000088.4:c.1865_1866delinsG