Canonical Allele Identifier: PA658826135
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549453
ClinVar RCV Id: RCV000664010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met2690Thr
CA392321605
NM_000138.5:c.8069T>C