ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812798
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528427
ClinVar RCV Id:
RCV000633616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly1403Asp
CA3395039
NM_001999.4:c.4208G>A