Canonical Allele Identifier: PA2573061516
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319508
ClinVar RCV Id: RCV003237509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1342Pro
CA392320538
NM_000138.5:c.4024A>C