Canonical Allele Identifier: PA658800713
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527205
ClinVar RCV Id: RCV000632009 RCV002470939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1487Gly
CA392353834
NM_000138.5:c.4460A>G