Canonical Allele Identifier: PA1139674515
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924866
ClinVar RCV Id: RCV001186480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1396Ala
CA392320017
NM_000138.5:c.4186A>G