Canonical Allele Identifier: PA645404256
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406359
ClinVar RCV Id: RCV000467145 RCV001381625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys661Tyr
CA16614668
NM_000138.5:c.1982G>A