Canonical Allele Identifier: PA282300
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42446
ClinVar RCV Id: RCV000035292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln2867Pro
CA017835
NM_000138.5:c.8600A>C