ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829652184
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483094
ClinVar RCV Id:
RCV001995971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006320.2:p.Arg408His
CA390639420
NM_006329.4:c.1223G>A