ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057490812
Gene: HBB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Ala130Thr
CA5839694
NM_000518.5:c.388G>A