ClinGen Allele Registry
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Canonical Allele Identifier:
PA124796
Gene: HBB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000509.1:p.Phe72Ser
NM_000518.5:c.[210del;212C>G;214T>A;216T>...
NM_000518.5:c.[210del;212C>G;214T>C;216T>...
NM_000518.5:c.[210del;212C>G;214T>G;216T>...
NM_000518.5:c.[210del;212C>G;214T=;216T>C...
NM_000518.5:c.[210del;212C>G;216T>C;217du...
NM_000518.5:c.215T>C