Canonical Allele Identifier: PA131193
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42358
ClinVar RCV Id: RCV000035197 RCV000537855 RCV000770668 RCV001537866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1446Val
CA014977
NM_000138.5:c.4337A>T