Canonical Allele Identifier: PA281654
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16425
ClinVar RCV Id: RCV000017887 RCV002345247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1249Ser
CA014509
NM_000138.5:c.3746G>C
CA392324062
NM_000138.5:c.3745T>A