Canonical Allele Identifier: PA645404279
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426442
ClinVar RCV Id: RCV000489281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro698Ser
CA392337991
NM_000138.5:c.2092C>T