Canonical Allele Identifier: PA2825058635
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741839
ClinVar RCV Id: RCV002342406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1535Cys
CA392353144
NM_000138.5:c.4604A>G