Allele Registry

Canonical Allele Identifier: PA658670561

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000560109

RCV001573843

ClinVar Variation:

458755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly1094Arg	CA3395277 NM_001999.4:c.3280G>A CA360762034 NM_001999.4:c.3280G>C