Canonical Allele Identifier: PA658825956
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547319
ClinVar RCV Id: RCV000659540 RCV000817718 RCV001180615 RCV001374761 RCV002285393 RCV002485503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1388His
CA052135
NM_000138.5:c.4163G>A