Canonical Allele Identifier: PA2741887677
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2818679
ClinVar RCV Id: RCV003641540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gln1238Leu
CA360758203
NM_001999.4:c.3713A>T