Canonical Allele Identifier: PA304100
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200014
ClinVar RCV Id: RCV000181481 RCV000989330 RCV001184791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1062Asn
CA013857
NM_000138.5:c.3184G>A