Canonical Allele Identifier: PA2825057371
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2498613
ClinVar RCV Id: RCV003222822 RCV004538925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys582Trp
CA392340541
NM_000138.5:c.1746C>G