Canonical Allele Identifier: PA915959638
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658778
ClinVar RCV Id: RCV000815665 RCV001191877 RCV004001782 RCV004546565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1225Leu
CA051330
NM_000138.5:c.3674C>T