Allele Registry

Canonical Allele Identifier: PA645465134

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000221212

RCV000824483

RCV002417979

ClinVar Variation:

234845

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Phe2686Leu	CA3393943 NM_001999.4:c.8058C>A CA360748592 NM_001999.4:c.8058C>G CA360748602 NM_001999.4:c.8056T>C