Canonical Allele Identifier: PA2573163143
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478852
ClinVar RCV Id: RCV001990796 RCV004011041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln1224Arg
CA392324389
NM_000138.5:c.3671A>G