Canonical Allele Identifier: PA126545
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16471
ClinVar RCV Id: RCV000017935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1564Ser
CA015326
NM_000138.5:c.4691G>C
CA392352963
NM_000138.5:c.4690T>A