Canonical Allele Identifier: PA2825057836
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2088587
ClinVar RCV Id: RCV003018137
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala945Pro
CA392330472
NM_000138.5:c.2833G>C