Canonical Allele Identifier: PA645406122
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380285
ClinVar RCV Id: RCV000422176 RCV000632048 RCV000769626 RCV000659570 RCV001810910 RCV004530565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2278Ala
CA057451
NM_000138.5:c.6832C>G