Canonical Allele Identifier: PA346341
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180353
ClinVar RCV Id: RCV000157226 RCV002515046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1044Tyr
CA013806
NM_000138.5:c.3131G>A