Canonical Allele Identifier: PA645464701
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264426
ClinVar RCV Id: RCV000765800 RCV002311174 RCV002518725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ile853Leu
CA3395498
NM_001999.4:c.2557A>C
CA3395500
NM_001999.4:c.2557A>T