Canonical Allele Identifier: PA324121
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213421
ClinVar RCV Id: RCV000199574 RCV000633581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn2240Ser
CA324120
NM_001999.4:c.6719A>G