Canonical Allele Identifier: PA2573163066
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1515556
ClinVar RCV Id: RCV002261444 RCV002441218 RCV002048544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro970Leu
CA049335
NM_000138.5:c.2909C>T