Canonical Allele Identifier: PA2580254181
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1739212
ClinVar RCV Id: RCV002329987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ala1423Ser
CA360754113
NM_001999.4:c.4267G>T