Canonical Allele Identifier: PA2573163139
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459733
ClinVar RCV Id: RCV001982886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1206Cys
CA392324629
NM_000138.5:c.3616G>T