Canonical Allele Identifier: PA1139672998
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 922165
ClinVar RCV Id: RCV001182094 RCV001240901 RCV003145368 RCV004008272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln697Arg
CA046714
NM_000138.5:c.2090A>G