Canonical Allele Identifier: PA2825059187
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071097
ClinVar RCV Id: RCV004014599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1937Arg
CA392340193
NM_000138.5:c.5809G>C
CA392340194
NM_000138.5:c.5809G>A