Canonical Allele Identifier: PA304138
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200038
ClinVar RCV Id: RCV001170774 RCV001704866 RCV001341819 RCV003996686 RCV002485194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1384Val
CA014788
NM_000138.5:c.4150A>G