Canonical Allele Identifier: PA658825957
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549212
ClinVar RCV Id: RCV000663699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1395His
CA392320048
NM_000138.5:c.4183T>C