Allele Registry

Canonical Allele Identifier: PA131175

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035175

RCV000587741

RCV000631923

RCV000659527

RCV001170779

ClinVar Variation:

42338

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val1172Met	CA014243 NM_000138.5:c.3514G>A