ClinGen Allele Registry
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Canonical Allele Identifier:
PA125071
Gene: HBB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Glu122Lys
CA037538
NM_000518.5:c.[364G>A;20A>T]
CA037973
NM_000518.5:c.[364G>A;34G>A]
CA125070
NM_000518.5:c.364G>A