Allele Registry

Canonical Allele Identifier: PA645465068

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV001859454

RCV002310933

ClinVar Variation:

263964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg2330Lys	CA10587602 NM_001999.4:c.6989G>A