Canonical Allele Identifier: PA2580254214
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1749587
ClinVar RCV Id: RCV002359695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gln1927Lys
CA3394603
NM_001999.4:c.5779C>A