Canonical Allele Identifier: PA324263
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213264
ClinVar RCV Id: RCV000199714 RCV000555367 RCV002277519 RCV002399724 RCV003330565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gly53Ser
CA324262
NM_001999.4:c.157G>A