Canonical Allele Identifier: PA2499228794
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018326
ClinVar RCV Id: RCV001526047 RCV001317610
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1398Gly
CA052158
NM_000138.5:c.4193A>G