Canonical Allele Identifier: PA2573162700
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511860
ClinVar RCV Id: RCV002016928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala339Ser
CA392347879
NM_000138.5:c.1015G>T