Canonical Allele Identifier: PA2825058677
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2578735
ClinVar RCV Id: RCV003326911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1572Asn
CA392352879
NM_000138.5:c.4715C>A