Canonical Allele Identifier: PA645405873
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237101
ClinVar RCV Id: RCV000234135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2091Asp
CA10583240
NM_000138.5:c.6272G>A