Canonical Allele Identifier: PA282197
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42343
ClinVar RCV Id: RCV000035181 RCV001055721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1283Ala
CA014592
NM_000138.5:c.3848A>C