Canonical Allele Identifier: PA658670573
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458757
ClinVar RCV Id: RCV000556628 RCV003105946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu1118Lys
CA360760082
NM_001999.4:c.3352G>A