ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573216472
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519869
ClinVar RCV Id:
RCV002024827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371087.1:p.Ile482Met
CA7312563
NM_001384158.1:c.1446A>G