Canonical Allele Identifier: PA2825057387
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069962
ClinVar RCV Id: RCV004009994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro600Ala
CA392340303
NM_000138.5:c.1798C>G