Canonical Allele Identifier: PA645404685
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429319
ClinVar RCV Id: RCV000494510 RCV001248380 RCV003444556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1028Gly
CA392328329
NM_000138.5:c.3083A>G