Canonical Allele Identifier: PA2825059733
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075326
ClinVar RCV Id: RCV004015852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2312Arg
CA392330682
NM_000138.5:c.6934G>C
CA392330683
NM_000138.5:c.6934G>A