ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464820
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411815
ClinVar RCV Id:
RCV000473636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly1172Asp
CA16611897
NM_001999.4:c.3515G>A