Canonical Allele Identifier: PA2573163279
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1503849
ClinVar RCV Id: RCV002045532
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1521Leu
CA392353365
NM_000138.5:c.4562C>T