Canonical Allele Identifier: PA645404829
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391621
ClinVar RCV Id: RCV000427581 RCV003766441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1139Gln
CA050549
NM_000138.5:c.3415G>C