Canonical Allele Identifier: PA176118
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163486
ClinVar RCV Id: RCV000150707 RCV000338830 RCV000363432 RCV000246481 RCV000358510 RCV000303596 RCV000391023 RCV000391019 RCV000588579 RCV001084497
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala27Thr
CA017499
NM_000138.5:c.79G>A