Canonical Allele Identifier: PA1139674950
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925754
ClinVar RCV Id: RCV001187888 RCV001205230 RCV004008747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1541Gln
CA053448
NM_000138.5:c.4622G>A