Canonical Allele Identifier: PA304228
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200085
ClinVar RCV Id: RCV000181568 RCV000796054 RCV001181845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2150Leu
CA016480
NM_000138.5:c.6449G>T