Canonical Allele Identifier: PA2573061508
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1312801
ClinVar RCV Id: RCV001774255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro970His
CA392329842
NM_000138.5:c.2909C>A