Canonical Allele Identifier: PA2573061467
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330677
ClinVar RCV Id: RCV001811795 RCV003120696
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1958Ser
CA392340016
NM_000138.5:c.5873G>C
CA392340019
NM_000138.5:c.5872T>A