Canonical Allele Identifier: PA2499228786
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069719
ClinVar RCV Id: RCV001381677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1039Tyr
CA16609291
NM_000138.5:c.3116G>A