Canonical Allele Identifier: PA645465066
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289728
ClinVar RCV Id: RCV000290426 RCV000696153 RCV000659629 RCV001199020 RCV002374485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ala2328Ser
CA3394257
NM_001999.4:c.6982G>T