Canonical Allele Identifier: PA2573061521
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331934
ClinVar RCV Id: RCV001804450 RCV004009088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1576Ile
CA392352788
NM_000138.5:c.4728G>T
CA392352791
NM_000138.5:c.4728G>C
CA392352793
NM_000138.5:c.4728G>A