Allele Registry

Canonical Allele Identifier: PA1139700927

Gene: FBN2 HGNC NCBI

ClinVar Allele:

829974

ClinVar RCV:

RCV001056613

ClinVar Variation:

852068

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly1251Arg	CA127013871 NM_001999.4:c.3751G>A CA360758102 NM_001999.4:c.3751G>C