Canonical Allele Identifier: PA658800435
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527174
ClinVar RCV Id: RCV000631953 RCV000663922 RCV000788188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly234Asp
CA392445853
NM_000138.5:c.701G>A