Canonical Allele Identifier: PA320127
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213276
ClinVar RCV Id: RCV000195754 RCV000633592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp548Glu
CA320126
NM_001999.4:c.1644T>G
CA360743823
NM_001999.4:c.1644T>A