Canonical Allele Identifier: PA355024
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220855
ClinVar RCV Id: RCV000203678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1852Gly
CA347974
NM_000138.5:c.5555A>G