Canonical Allele Identifier: PA1139677624
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918552
ClinVar RCV Id: RCV001176210 RCV002246017 RCV002555453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2676Ser
CA059462
NM_000138.5:c.8026C>T