Canonical Allele Identifier: PA645406505
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237106
ClinVar RCV Id: RCV000229179 RCV000273444 RCV000295866 RCV000270822 RCV000365739 RCV000330801 RCV000362980 RCV000387643 RCV000506463 RCV001706243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2717Lys
CA059678
NM_000138.5:c.8149G>A