Canonical Allele Identifier: PA2499228870
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058847
ClinVar RCV Id: RCV001368028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln1253His
CA392323993
NM_000138.5:c.3759G>T
CA392323994
NM_000138.5:c.3759G>C