Canonical Allele Identifier: PA282181
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42311
ClinVar RCV Id: RCV000035145 RCV000427032 RCV001215995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys832Tyr
CA013156
NM_000138.5:c.2495G>A