Canonical Allele Identifier: PA2573162880
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1495161
ClinVar RCV Id: RCV001999164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly676Cys
CA392338463
NM_000138.5:c.2026G>T