Canonical Allele Identifier: PA2573061492
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332636
ClinVar RCV Id: RCV001805682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1937Ala
CA392340189
NM_000138.5:c.5810G>C