Canonical Allele Identifier: PA2573163287
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1678250
ClinVar RCV Id: RCV002224841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1547Ala
CA392353073
NM_000138.5:c.4639A>G