Canonical Allele Identifier: PA2573162492
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352148
ClinVar RCV Id: RCV002047378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2841Lys
CA392318692
NM_000138.5:c.8521G>A