Allele Registry

Canonical Allele Identifier: PA304204

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181554

RCV001852282

ClinVar Variation:

200071

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1973Gly	CA016172 NM_000138.5:c.5918A>G