Canonical Allele Identifier: PA2825058429
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071749
ClinVar RCV Id: RCV004016243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1399Asp
CA392319962
NM_000138.5:c.4196G>A