Canonical Allele Identifier: PA658825915
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547309
ClinVar RCV Id: RCV000659526 RCV003767906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1159Tyr
CA392325981
NM_000138.5:c.3476G>A