Canonical Allele Identifier: PA658661338
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457262
ClinVar RCV Id: RCV000560345 RCV001120206 RCV001120208 RCV001120204 RCV001120209 RCV001120210 RCV001120205 RCV001120207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2506Ser
CA058726
NM_000138.5:c.7516G>A