Canonical Allele Identifier: PA645405671
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406289
ClinVar RCV Id: RCV000476381 RCV001753875 RCV001181376 RCV001095722 RCV002502618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1861Asn
CA055263
NM_000138.5:c.5582G>A