Canonical Allele Identifier: PA101729
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519
ClinVar RCV Id: RCV000000548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys1253Tyr
CA281512
NM_001999.4:c.3758G>A