Canonical Allele Identifier: PA2825058423
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573965
ClinVar RCV Id: RCV003318301 RCV004009735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1397Ser
CA392320003
NM_000138.5:c.4189G>A