Allele Registry

Canonical Allele Identifier: PA658670349

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000519576

RCV000797105

RCV002313320

RCV003226955

ClinVar Variation:

451214

519839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Met224Ile	CA3396030 NM_001999.4:c.672G>T CA127045982 NM_001999.4:c.672G>A CA360755627 NM_001999.4:c.672G>C