Canonical Allele Identifier: PA281830
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36100
ClinVar RCV Id: RCV000029762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2129Tyr
CA016393
NM_000138.5:c.6385G>T