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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.His2871_Ter2872insTyrPheThrIleGlnArgProAsnAsn
CA392318364
NM_000138.5:c.8616A>T
CA392318366
NM_000138.5:c.8616A>C