Canonical Allele Identifier: PA645405825
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375299
ClinVar RCV Id: RCV000416355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2002Ser
CA16044046
NM_000138.5:c.6004C>T