Canonical Allele Identifier: PA658661186
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449437
ClinVar RCV Id: RCV000523160 RCV000531397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2168Gly
CA392335330
NM_000138.5:c.6503A>G