Canonical Allele Identifier: PA320978
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213301
ClinVar RCV Id: RCV000196552 RCV002515357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Phe1070Tyr
CA320977
NM_001999.4:c.3209T>A