Canonical Allele Identifier: PA282201
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42345
ClinVar RCV Id: RCV000035184 RCV001036694 RCV001180858 RCV001839446 RCV002482954 RCV004528166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1334Asp
CA014688
NM_000138.5:c.4001G>A