Allele Registry

Canonical Allele Identifier: PA180515

Gene: FBN1 HGNC NCBI

ClinVar Allele:

51604

ClinVar RCV:

RCV000035279

RCV000154182

RCV000464816

RCV000765219

RCV001184743

ClinVar Variation:

42434

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2618Arg	CA017420 NM_000138.5:c.7852G>A CA392323396 NM_000138.5:c.7852G>C