Canonical Allele Identifier: PA645406300
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406366
ClinVar RCV Id: RCV000472916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2444Gly
CA16614395
NM_000138.5:c.7331A>G