Canonical Allele Identifier: PA645465110
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429671
ClinVar RCV Id: RCV000755537 RCV001087286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp2493Asn
CA3394103
NM_001999.4:c.7477G>A