Canonical Allele Identifier: PA131195
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36074
ClinVar RCV Id: RCV000035201 RCV000029736 RCV000515317 RCV000724063 RCV001088381 RCV001176800 RCV004541020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1481Gly
CA015068
NM_000138.5:c.4441A>G