Canonical Allele Identifier: PA304405
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200202
ClinVar RCV Id: RCV000181709 RCV001042367 RCV001181848 RCV003996706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2733Arg
CA017608
NM_000138.5:c.8198C>G