ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101817
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458759
ClinVar RCV Id:
RCV000549680
RCV001090286
RCV000765799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Glu1161Lys
CA360759585
NM_001999.4:c.3481G>A