Canonical Allele Identifier: PA658692647
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495640
ClinVar RCV Id: RCV000588140 RCV003528200
ClinVar Variation Id: 633210
ClinVar RCV Id: RCV000781362 RCV001856195 RCV004001530
ClinVar Variation Id: 3075471
ClinVar RCV Id: RCV004016989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met2244Ile
CA057299
NM_000138.5:c.6732G>A
CA392333198
NM_000138.5:c.6732G>T
CA392333201
NM_000138.5:c.6732G>C