Canonical Allele Identifier: PA2499228814
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172082
ClinVar RCV Id: RCV001525690 RCV002568102 RCV004008863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1967Tyr
CA055790
NM_000138.5:c.5899G>T