ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828938416
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930246
ClinVar RCV Id:
RCV001195769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Ala377Val
CA390640550
NM_001384160.1:c.1130C>T