Canonical Allele Identifier: PA658826014
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549307
ClinVar RCV Id: RCV000663821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1932Ala
CA392340253
NM_000138.5:c.5795A>C