Canonical Allele Identifier: PA304300
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200125
ClinVar RCV Id: RCV000181623 RCV000553667 RCV002314685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2669Cys
CA017505
NM_000138.5:c.8005G>T