ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938084
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2777037
ClinVar RCV Id:
RCV003665085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371088.1:p.Pro392Arg
CA390640574
NM_001384159.1:c.1175C>G