Canonical Allele Identifier: PA645404976
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316376
ClinVar RCV Id: RCV000296357 RCV000310061 RCV000351320 RCV000350260 RCV000375658 RCV000403503 RCV000404390 RCV001523627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1247Ile
CA051501
NM_000138.5:c.3740A>T