Canonical Allele Identifier: PA131171
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42334
ClinVar RCV Id: RCV000035170 RCV000228084 RCV000266428 RCV000251557 RCV000279248 RCV000292691 RCV000375425 RCV000377620 RCV000337118 RCV001703450 RCV001775003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1141Leu
CA014098
NM_000138.5:c.3422C>T