Canonical Allele Identifier: PA645405474
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237096
ClinVar RCV Id: RCV000229864 RCV000663764 RCV001189722 RCV001572135 RCV003155134
ClinVar Variation Id: 921816
ClinVar RCV Id: RCV001181466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1714Ile
CA054359
NM_000138.5:c.5142G>A
CA392349210
NM_000138.5:c.5142G>T
CA392349211
NM_000138.5:c.5142G>C