Canonical Allele Identifier: PA304098
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200013
ClinVar RCV Id: RCV000181480 RCV002517771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1058Val
CA013848
NM_000138.5:c.3173G>T