Canonical Allele Identifier: PA645406594
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263832
ClinVar RCV Id: RCV000248624 RCV000279195 RCV000284981 RCV000338888 RCV000339896 RCV000373725 RCV000399054 RCV000589560 RCV000333030 RCV001085174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2788Met
CA059963
NM_000138.5:c.8363C>T