Canonical Allele Identifier: PA126543
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16469
ClinVar RCV Id: RCV000017933
ClinVar Variation Id: 16470
ClinVar RCV Id: RCV000017934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp1570Cys
CA015361
NM_000138.5:c.4710G>C
CA015367
NM_000138.5:c.4710G>T