Canonical Allele Identifier: PA2573163037
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352424
ClinVar RCV Id: RCV002049464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln907His
CA048551
NM_000138.5:c.2721A>T
CA392331603
NM_000138.5:c.2721A>C