Canonical Allele Identifier: PA645404418
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406321
ClinVar RCV Id: RCV000474691 RCV000663552 RCV000769647 RCV000780241 RCV002056710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile849Met
CA048013
NM_000138.5:c.2547C>G