Canonical Allele Identifier: PA1139674483
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 922913
ClinVar RCV Id: RCV001183257 RCV002483997 RCV002559828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1384Ile
CA392320214
NM_000138.5:c.4152G>T
CA392320215
NM_000138.5:c.4152G>C
CA392320216
NM_000138.5:c.4152G>A