Canonical Allele Identifier: PA319692
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211000
ClinVar RCV Id: RCV000192472 RCV000532448 RCV001721252 RCV002314816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg2402His
CA319691
NM_001999.4:c.7205G>A