Canonical Allele Identifier: PA304192
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200065
ClinVar RCV Id: RCV000181546 RCV000632002
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1838Asp
CA015860
NM_000138.5:c.5513G>A