ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100565
Gene: FLNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104026.1:p.Glu82Val
NM_001110556.2:c.245A>T