Canonical Allele Identifier: PA645404793
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406367
ClinVar RCV Id: RCV000520471 RCV000465841 RCV001187622 RCV002480367 RCV004000737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1076Leu
CA050201
NM_000138.5:c.3226A>C
CA269532112
NM_000138.5:c.3226A>T