Canonical Allele Identifier: PA658825969
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549234
ClinVar RCV Id: RCV000663730 RCV003228975 RCV003767933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1487Ala
CA392353833
NM_000138.5:c.4460A>C