Canonical Allele Identifier: PA323112
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213229
ClinVar RCV Id: RCV000298589 RCV001711507 RCV002503763 RCV002453718
ClinVar Variation Id: 547357
ClinVar RCV Id: RCV000659614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr1173Ser
CA323111
NM_001999.4:c.3518C>G
CA360759430
NM_001999.4:c.3517A>T