Canonical Allele Identifier: PA2580263484
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1738498
ClinVar RCV Id: RCV002327709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser1394Arg
CA360754854
NM_001999.4:c.4182C>G
CA360754857
NM_001999.4:c.4182C>A
CA360754880
NM_001999.4:c.4180A>C