Allele Registry

Canonical Allele Identifier: PA2573061508

Gene: FBN1 HGNC NCBI

ClinVar Allele:

1303062

ClinVar RCV:

RCV001774255

ClinVar Variation:

1312801

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro970His	CA392329842 NM_000138.5:c.2909C>A