Canonical Allele Identifier: PA346345
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180355
ClinVar RCV Id: RCV000157229 RCV001376801 RCV003476877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1509Cys
CA015164
NM_000138.5:c.4526A>G