Canonical Allele Identifier: PA304048
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199987
ClinVar RCV Id: RCV000181451 RCV000821004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala691Pro
CA012772
NM_000138.5:c.2071G>C