Canonical Allele Identifier: PA295221
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161235
ClinVar RCV Id: RCV000148489 RCV000755197 RCV001183242 RCV001218747 RCV000756134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1266Phe
CA014562
NM_000138.5:c.3797A>T