Canonical Allele Identifier: PA2825059190
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068183
ClinVar RCV Id: RCV003991863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1939Trp
CA392340165
NM_000138.5:c.5815G>T