Canonical Allele Identifier: PA304202
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200070
ClinVar RCV Id: RCV000181553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1942Phe
CA016098
NM_000138.5:c.5825G>T