Canonical Allele Identifier: PA282223
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42363
ClinVar RCV Id: RCV000035203 RCV000538495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1502Tyr
CA015141
NM_000138.5:c.4505G>A