Canonical Allele Identifier: PA1139700843
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945156
ClinVar RCV Id: RCV001215726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser1194Phe
CA127014877
NM_001999.4:c.3581C>T