Canonical Allele Identifier: PA304158
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200048
ClinVar RCV Id: RCV000181524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1506Ser
CA015149
NM_000138.5:c.4516C>T