Canonical Allele Identifier: PA131191
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42356
ClinVar RCV Id: RCV000035195 RCV000515216 RCV000536927 RCV000663715 RCV000770669 RCV001119299 RCV001119300 RCV001119301 RCV001121320 RCV001121319 RCV001711363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1436Met
CA014927
NM_000138.5:c.4306G>A