ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464576
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000489073
RCV002523415
ClinVar Variation:
426766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly464Asp
CA3395812
NM_001999.4:c.1391G>A