Canonical Allele Identifier: PA2573162404
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV001963568
ClinVar Variation:
1464885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu2671Pro
CA392322657
NM_000138.5:c.8012T>C