Canonical Allele Identifier: PA304401
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200200
ClinVar RCV Id: RCV000690617 RCV000505745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu2626Gln
CA017429
NM_000138.5:c.7877T>A