Canonical Allele Identifier: PA126533
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16451
ClinVar RCV Id: RCV000154459 RCV000148494 RCV000242225 RCV000290413 RCV000297783 RCV000340663 RCV000305937 RCV000357267 RCV000360569 RCV000589339 RCV000767968 RCV000845006 RCV001084627 RCV001837435 RCV004532380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1170His
CA014215
NM_000138.5:c.3509G>A