Canonical Allele Identifier: PA295219
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161234
ClinVar RCV Id: RCV000148488 RCV000530970 RCV000995333 RCV001117026 RCV001117027 RCV001115601 RCV001115603 RCV001115602 RCV002483288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2414Gln
CA017125
NM_000138.5:c.7241G>A