Canonical Allele Identifier: PA323074
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213328
ClinVar RCV Id: RCV000261737 RCV000659620 RCV001721272 RCV002310787 RCV003488450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp1485Gly
CA323073
NM_001999.4:c.4454A>G