Canonical Allele Identifier: PA2825058654
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075232
ClinVar RCV Id: RCV004015758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1560Pro
CA053517
NM_000138.5:c.4678G>C