Canonical Allele Identifier: PA658661073
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457232
ClinVar RCV Id: RCV000663793 RCV000539130 RCV002298644 RCV002350188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1838Ser
CA392344045
NM_000138.5:c.5512G>A