Canonical Allele Identifier: PA321370
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213412
ClinVar RCV Id: RCV000196944 RCV000819761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Pro1623Ala
CA321369
NM_001999.4:c.4867C>G