Canonical Allele Identifier: PA2573163160
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406071
ClinVar RCV Id: RCV001906807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1265Phe
CA392323787
NM_000138.5:c.3794G>T