Canonical Allele Identifier: PA658670597
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449577
ClinVar RCV Id: RCV000522133 RCV000768220 RCV002527580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1195His
CA3395197
NM_001999.4:c.3584G>A