ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938043
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1342917
ClinVar RCV Id:
RCV001843340
RCV002034713
RCV002290773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371088.1:p.Arg348His
CA7312638
NM_001384159.1:c.1043G>A