Canonical Allele Identifier: PA658800780
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527203
ClinVar RCV Id: RCV000632006 RCV002463364 RCV003226342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1806Phe
CA392345808
NM_000138.5:c.5417G>T