Canonical Allele Identifier: PA658660919
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457209
ClinVar RCV Id: RCV000544870 RCV001181854 RCV002497066 RCV004003786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1439Gly
CA052473
NM_000138.5:c.4316C>G