ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580126368
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016512
ClinVar Variation:
15282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Lys18Glu
CA217115373
NM_000518.5:c.52A>G