Canonical Allele Identifier: PA295237
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161244
ClinVar RCV Id: RCV000148500 RCV000181421 RCV000284823 RCV000315057 RCV000364336 RCV000393539 RCV000307377 RCV000463596 RCV000393542 RCV000659507 RCV000588674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly343Arg
CA011866
NM_000138.5:c.1027G>A
CA392347835
NM_000138.5:c.1027G>C