Canonical Allele Identifier: PA2573163222
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464721
ClinVar RCV Id: RCV001956960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1388Ser
CA392320175
NM_000138.5:c.4162C>A