Canonical Allele Identifier: PA915979992
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 689378
ClinVar RCV Id: RCV000850090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys1174Phe
CA360759410
NM_001999.4:c.3521G>T