Canonical Allele Identifier: PA658800618
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519571
ClinVar RCV Id: RCV002250670 RCV002314188 RCV002483725 RCV002531809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1042Ser
CA392328152
NM_000138.5:c.3124G>A