Canonical Allele Identifier: PA303990
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199956
ClinVar RCV Id: RCV001269512 RCV000460503 RCV000586274 RCV000663867 RCV000766239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly214Ser
CA016423
NM_000138.5:c.640G>A