Canonical Allele Identifier: PA2580263272
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699061
ClinVar RCV Id: RCV002272918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.His163Gln
CA360758564
NM_001999.4:c.489C>G
CA360758565
NM_001999.4:c.489C>A