Canonical Allele Identifier: PA645405999
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263837
ClinVar RCV Id: RCV000246065 RCV001859450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2144His
CA10587800
NM_000138.5:c.6430A>C