Canonical Allele Identifier: PA2825059193
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073267
ClinVar RCV Id: RCV004015281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1939Glu
CA055723
NM_000138.5:c.5816G>A