Canonical Allele Identifier: PA2573061456
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305067
ClinVar RCV Id: RCV001765242 RCV002359232 RCV003771934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1238His
CA392324291
NM_000138.5:c.3712G>C