Canonical Allele Identifier: PA1139674485
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926775
ClinVar RCV Id: RCV001189586 RCV001862999 RCV002463786 RCV003389862 RCV004010370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1388Cys
CA052126
NM_000138.5:c.4162C>T