Canonical Allele Identifier: PA658691587
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495598
ClinVar RCV Id: RCV000588339 RCV002530893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1226Val
CA392324369
NM_000138.5:c.3677G>T