Canonical Allele Identifier: PA2499228750
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004623
ClinVar RCV Id: RCV001301357 RCV002224050 RCV003989672 RCV002447290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg364Gln
CA043494
NM_000138.5:c.1091G>A