Canonical Allele Identifier: PA1139678079
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 965285
ClinVar RCV Id: RCV001239693 RCV001290515 RCV003145461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2848Arg
CA392318593
NM_000138.5:c.8543A>G