Canonical Allele Identifier: PA645406637
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406357
ClinVar RCV Id: RCV000459677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2824Asp
CA16614619
NM_000138.5:c.8471C>A