Canonical Allele Identifier: PA658670591
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 451979
ClinVar RCV Id: RCV000522475 RCV002528259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu1178Asp
CA3395204
NM_001999.4:c.3534G>C
CA360759366
NM_001999.4:c.3534G>T