Canonical Allele Identifier: PA281826
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36097
ClinVar RCV Id: RCV000029759 RCV000125014 RCV000769631 RCV000755532 RCV004541021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2025Ser
CA016230
NM_000138.5:c.6073G>T