Canonical Allele Identifier: PA354861
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222603
ClinVar RCV Id: RCV000208111 RCV000989326 RCV000799739 RCV001184036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1191Asn
CA051096
NM_000138.5:c.3571G>A