Canonical Allele Identifier: PA658826144
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547350
ClinVar RCV Id: RCV000659588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2831Phe
CA392318810
NM_000138.5:c.8491A>T