Canonical Allele Identifier: PA913191872
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626586
ClinVar RCV Id: RCV000769624 RCV002487569 RCV002533951 RCV003999928 RCV004535896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln2296His
CA392330885
NM_000138.5:c.6888G>T
CA392330887
NM_000138.5:c.6888G>C