Canonical Allele Identifier: PA1139677653
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 923457
ClinVar RCV Id: RCV001184166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met2690Leu
CA392321610
NM_000138.5:c.8068A>T
CA392321613
NM_000138.5:c.8068A>C