Canonical Allele Identifier: PA658800678
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 505164
ClinVar RCV Id: RCV000614439
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1401Asn
CA392319918
NM_000138.5:c.4202C>A