Canonical Allele Identifier: PA245203
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 155796
ClinVar RCV Id: RCV000143896 RCV000199324 RCV000229340 RCV000724479 RCV000659593 RCV002277283 RCV003935229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr173Ile
CA245202
NM_001999.4:c.518C>T