Canonical Allele Identifier: PA2825059180
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1723088
ClinVar RCV Id: RCV002306195 RCV003099100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1930Gly
CA392340280
NM_000138.5:c.5789A>G