Canonical Allele Identifier: PA1139673683
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925193
ClinVar RCV Id: RCV001187017 RCV001225327 RCV002484022 RCV004008652
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1009Leu
CA392328991
NM_000138.5:c.3026C>T