Canonical Allele Identifier: PA304270
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200109
ClinVar RCV Id: RCV000181596 RCV003765119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2416Arg
CA017132
NM_000138.5:c.7246G>A
CA392328766
NM_000138.5:c.7246G>C