ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938432
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314871
ClinVar RCV Id:
RCV000270558
RCV000325555
RCV000910443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Arg457Gln
CA7312583
NM_001384160.1:c.1370G>A