Canonical Allele Identifier: PA645404573
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264248
ClinVar RCV Id: RCV002298557 RCV002311113
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg961Lys
CA10587842
NM_000138.5:c.2882G>A