Canonical Allele Identifier: PA658661453
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457269
ClinVar RCV Id: RCV000546431 RCV001181857 RCV000765217 RCV001591196 RCV002298645 RCV002282205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln2744His
CA392320213
NM_000138.5:c.8232G>T
CA392320221
NM_000138.5:c.8232G>C