Canonical Allele Identifier: PA304304
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200127
ClinVar RCV Id: RCV000181625 RCV000476927 RCV000659584 RCV000770651 RCV003987427
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2680Cys
CA017529
NM_000138.5:c.8038C>T