Canonical Allele Identifier: PA1139674234
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928219
ClinVar RCV Id: RCV001191991 RCV003320810 RCV002560135 RCV003448374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1230Leu
CA051344
NM_000138.5:c.3688A>C
CA392324346
NM_000138.5:c.3688A>T