Canonical Allele Identifier: PA645404150
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426255
ClinVar RCV Id: RCV000490226 RCV001377294
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly585Arg
CA392340506
NM_000138.5:c.1753G>C
CA392340510
NM_000138.5:c.1753G>A