Canonical Allele Identifier: PA304226
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200084
ClinVar RCV Id: RCV000589021 RCV001306630 RCV003243004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2150Cys
CA016472
NM_000138.5:c.6448C>T