Canonical Allele Identifier: PA658670529
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458749
ClinVar RCV Id: RCV000545913 RCV002438317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu981Asp
CA3395389
NM_001999.4:c.2943G>T
CA360765281
NM_001999.4:c.2943G>C