Canonical Allele Identifier: PA658691332
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495589
ClinVar RCV Id: RCV000587101 RCV001853974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1127Asp
CA392326583
NM_000138.5:c.3380G>A