Canonical Allele Identifier: PA323606
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213254
ClinVar RCV Id: RCV000228951 RCV000659022 RCV002310775 RCV002277512 RCV003330563 RCV003927824
ClinVar Variation Id: 1594061
ClinVar RCV Id: RCV002105418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.His2694Gln
CA323605
NM_001999.4:c.8082C>A
CA360748540
NM_001999.4:c.8082C>G