Canonical Allele Identifier: PA1139674758
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926276
ClinVar RCV Id: RCV001188768
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1494Ser
CA392353769
NM_000138.5:c.4480C>T