Canonical Allele Identifier: PA658800820
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519743
ClinVar RCV Id: RCV000772652 RCV001037800 RCV004002721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1968Arg
CA055795
NM_000138.5:c.5902G>A
CA392339951
NM_000138.5:c.5902G>C