ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670380
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458729
ClinVar RCV Id:
RCV000528526
RCV003441919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly364Asp
CA3395884
NM_001999.4:c.1091G>A