Canonical Allele Identifier: PA1139674999
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857217
ClinVar RCV Id: RCV001062847 RCV003307900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1563Trp
CA392352964
NM_000138.5:c.4689C>G