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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.[Pro129_Leu140delinsLeuAlaGluMetAlaSerLeuAspSerLeuAspPhe;Gly142Asp;Gly145Asp;Gly148_Pro149delinsAspLeu;Gly151Asp;Pro153_Asn158delinsLeuAlaSerGluGluThr]
CA8645709
NM_000088.4:c.386del