ClinGen Allele Registry
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Canonical Allele Identifier:
PA124825
Gene: HBB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Glu122Gln
CA037744
NM_000518.5:c.[364G>C;79G>A]
CA037750
NM_000518.5:c.[364G>C;280T>C]
CA037933
NM_000518.5:c.[364G>C;29C>A]
CA124824
NM_000518.5:c.364G>C