Canonical Allele Identifier: PA2573061442
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332324
ClinVar RCV Id: RCV001805370 RCV002503299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2178Ser
CA392335111
NM_000138.5:c.6533A>G