Canonical Allele Identifier: PA2825058424
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072439
ClinVar RCV Id: RCV004013461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1397Ala
CA052146
NM_000138.5:c.4190G>C