ClinGen Allele Registry
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Canonical Allele Identifier:
PA125335
Gene: HBB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000509.1:p.His98_Val99delinsLeu
NM_000518.5:c.293_295del
NM_000518.5:c.[293_295del;297G>A]
NM_000518.5:c.[293_295del;297G>C]
NM_000518.5:c.[293_295del;297G=]
NM_000518.5:c.[293_295del;297G>T]