Canonical Allele Identifier: PA2573162497
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470177
ClinVar RCV Id: RCV001973198 RCV002466727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2846Gln
CA392318626
NM_000138.5:c.8536G>C