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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.[Met657_Lys666delinsThrCysGlyAlaHisAlaMetValAspThr;Gly668_Pro673delinsGluAlaSerValSerAsn;Phe675_Cys685delinsCysLeuValLeuSerLeuAsnLeuAsnAlaVal;Ala686_Ser687insPro]
CA2824998302
NM_000138.5:c.1968_1969dup